Canonical Allele Identifier: CA1129598328
Gene: POMT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131515944_131515945insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA , CM000671.2:g.131515944_131515945insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA GRCh38
NC_000009.11:g.134391331_134391332insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA , CM000671.1:g.134391331_134391332insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA GRCh37
NC_000009.10:g.133381152_133381153insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA NCBI36
NG_008896.1:g.18043_18044insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA
NG_008896.2:g.18043_18044insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1110+422_1110+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA ENSP00000343034.7:n.1110+422_1110+423insGACGGAACACTTCCTCTAACA...
ENST00000404875.7:n.1812+422_1812+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA
ENST00000423007.6:c.1329+422_1329+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA ENSP00000404119.2:n.1329+422_1329+423insGACGGAACACTTCCTCTAACA...
ENST00000677295.2:c.*1616+422_*1616+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA ENSP00000504346.2:n.*1616+422_*1616+423insGACGGAACACTTCCTCTAA...
ENST00000678264.2:c.*1455+422_*1455+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA ENSP00000503157.2:n.*1455+422_*1455+423insGACGGAACACTTCCTCTAA...
ENST00000682070.1:n.1737+422_1737+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA
ENST00000682539.1:c.97+422_97+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA
ENST00000682813.1:n.1537+422_1537+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA
ENST00000683392.1:n.4019+422_4019+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA
ENST00000683712.1:n.1677+422_1677+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA
ENST00000683900.1:n.3172+422_3172+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA
ENST00000684062.1:n.1938+422_1938+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA
ENST00000684579.1:n.3118+422_3118+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA
ENST00000341012.12:c.1110+422_1110+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA ENSP00000343034.7:n.1110+422_1110+423insGACGGAACACTTCCTCTAACA...
ENST00000372220.5:c.141+422_141+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA ENSP00000361294.5:n.141+422_141+423insGACGGAACACTTCCTCTAACACA...
ENST00000372228.9:c.1338+422_1338+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA ENSP00000361302.3:n.1338+422_1338+423insGACGGAACACTTCCTCTAACA...
ENST00000402686.8:c.1272+422_1272+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA MANE Select ENSP00000385797.4:n.1272+422_1272+423insGACGGAACACTTCCTCTAACA...
ENST00000676640.1:c.1272+422_1272+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA ENSP00000503281.1:n.1272+422_1272+423insGACGGAACACTTCCTCTAACA...
ENST00000676803.1:c.447+422_447+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA ENSP00000503093.1:n.447+422_447+423insGACGGAACACTTCCTCTAACACA...
ENST00000676835.1:c.*487+422_*487+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA ENSP00000502911.1:n.*487+422_*487+423insGACGGAACACTTCCTCTAACA...
ENST00000677029.1:c.816+422_816+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA ENSP00000502936.1:n.816+422_816+423insGACGGAACACTTCCTCTAACACA...
ENST00000677099.1:c.*982+422_*982+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA ENSP00000504553.1:n.*982+422_*982+423insGACGGAACACTTCCTCTAACA...
ENST00000677216.1:c.921+422_921+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA ENSP00000503772.1:n.921+422_921+423insGACGGAACACTTCCTCTAACACA...
ENST00000677295.1:c.*649+422_*649+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA ENSP00000504346.1:n.*649+422_*649+423insGACGGAACACTTCCTCTAACA...
ENST00000677444.1:c.1078+422_1078+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA
ENST00000677586.1:n.753+422_753+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA
ENST00000677626.1:c.921+422_921+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA ENSP00000503552.1:n.921+422_921+423insGACGGAACACTTCCTCTAACACA...
ENST00000677677.1:n.1232+422_1232+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA
ENST00000677853.1:c.*280+422_*280+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA ENSP00000503488.1:n.*280+422_*280+423insGACGGAACACTTCCTCTAACA...
ENST00000677944.1:c.534+422_534+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA
ENST00000678264.1:c.*649+422_*649+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA ENSP00000503157.1:n.*649+422_*649+423insGACGGAACACTTCCTCTAACA...
ENST00000678303.1:c.1182+422_1182+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA ENSP00000503696.1:n.1182+422_1182+423insGACGGAACACTTCCTCTAACA...
ENST00000678366.1:c.*1521+422_*1521+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA ENSP00000504353.1:n.*1521+422_*1521+423insGACGGAACACTTCCTCTAA...
ENST00000678546.1:c.*1217+422_*1217+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA ENSP00000503062.1:n.*1217+422_*1217+423insGACGGAACACTTCCTCTAA...
ENST00000678548.1:c.*1344+422_*1344+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA ENSP00000503934.1:n.*1344+422_*1344+423insGACGGAACACTTCCTCTAA...
ENST00000678626.1:n.969+422_969+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA
ENST00000678733.1:c.353+422_353+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA
ENST00000678739.1:c.*1598+422_*1598+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA ENSP00000503806.1:n.*1598+422_*1598+423insGACGGAACACTTCCTCTAA...
ENST00000678795.1:n.359+422_359+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA
ENST00000678833.1:c.*719+422_*719+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA ENSP00000503893.1:n.*719+422_*719+423insGACGGAACACTTCCTCTAACA...
ENST00000678942.1:c.452+422_452+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA ENSP00000504690.1:n.452+422_452+423insGACGGAACACTTCCTCTAACACA...
ENST00000679023.1:c.1110+422_1110+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA ENSP00000503718.1:n.1110+422_1110+423insGACGGAACACTTCCTCTAACA...
ENST00000679076.1:c.891+422_891+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA
ENST00000679111.1:c.1272+422_1272+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA ENSP00000504257.1:n.1272+422_1272+423insGACGGAACACTTCCTCTAACA...
ENST00000679189.1:c.921+422_921+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA ENSP00000503356.1:n.921+422_921+423insGACGGAACACTTCCTCTAACACA...
ENST00000341012.11:c.1110+422_1110+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA ENSP00000343034.7:n.1110+422_1110+423insGACGGAACACTTCCTCTAACA...
ENST00000372228.7:c.1338+422_1338+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA ENSP00000361302.3:n.1338+422_1338+423insGACGGAACACTTCCTCTAACA...
ENST00000402686.7:c.1272+422_1272+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA ENSP00000385797.3:n.1272+422_1272+423insGACGGAACACTTCCTCTAACA...
ENST00000404875.6:c.921+422_921+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA ENSP00000384531.2:n.921+422_921+423insGACGGAACACTTCCTCTAACACA...
ENST00000423007.5:c.1272+422_1272+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA ENSP00000404119.1:n.1272+422_1272+423insGACGGAACACTTCCTCTAACA...
ENST00000485278.5:n.1827+422_1827+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA
NM_001077365.1:c.1272+422_1272+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA NP_001070833.1:n.1272+422_1272+423insGACGGAACACTTCCTCTAACACAG...
NM_001077366.1:c.1110+422_1110+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA NP_001070834.1:n.1110+422_1110+423insGACGGAACACTTCCTCTAACACAG...
NM_001136113.1:c.1272+422_1272+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA NP_001129585.1:n.1272+422_1272+423insGACGGAACACTTCCTCTAACACAG...
NM_001136114.1:c.921+422_921+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA NP_001129586.1:n.921+422_921+423insGACGGAACACTTCCTCTAACACAGGA...
NM_007171.3:c.1338+422_1338+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA NP_009102.3:n.1338+422_1338+423insGACGGAACACTTCCTCTAACACAGGAC...
XM_005272156.1:c.1338+422_1338+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA XP_005272213.1:n.1338+422_1338+423insGACGGAACACTTCCTCTAACACAG...
XM_005272158.1:c.1176+422_1176+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA XP_005272215.1:n.1176+422_1176+423insGACGGAACACTTCCTCTAACACAG...
XM_005272159.1:c.987+422_987+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA XP_005272216.1:n.987+422_987+423insGACGGAACACTTCCTCTAACACAGGA...
XM_005272162.1:c.141+422_141+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA XP_005272219.1:n.141+422_141+423insGACGGAACACTTCCTCTAACACAGGA...
XM_006716932.1:c.987+422_987+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA XP_006716995.1:n.987+422_987+423insGACGGAACACTTCCTCTAACACAGGA...
XM_011518140.1:c.1191+422_1191+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA XP_011516442.1:n.1191+422_1191+423insGACGGAACACTTCCTCTAACACAG...
XM_011518141.1:c.1125+422_1125+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA XP_011516443.1:n.1125+422_1125+423insGACGGAACACTTCCTCTAACACAG...
XM_011518142.1:c.1029+422_1029+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA XP_011516444.1:n.1029+422_1029+423insGACGGAACACTTCCTCTAACACAG...
XM_011518143.1:c.1023+422_1023+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA XP_011516445.1:n.1023+422_1023+423insGACGGAACACTTCCTCTAACACAG...
XM_011518144.1:c.1338+422_1338+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA XP_011516446.1:n.1338+422_1338+423insGACGGAACACTTCCTCTAACACAG...
XM_011518145.1:c.882+422_882+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA XP_011516447.1:n.882+422_882+423insGACGGAACACTTCCTCTAACACAGGA...
XM_011518146.1:c.1023+422_1023+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA XP_011516448.1:n.1023+422_1023+423insGACGGAACACTTCCTCTAACACAG...
XR_929703.1:n.1514+422_1514+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA
NM_001353193.1:c.1338+422_1338+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA NP_001340122.1:n.1338+422_1338+423insGACGGAACACTTCCTCTAACACAG...
NM_001353194.1:c.1110+422_1110+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA NP_001340123.1:n.1110+422_1110+423insGACGGAACACTTCCTCTAACACAG...
NM_001353195.1:c.921+422_921+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA NP_001340124.1:n.921+422_921+423insGACGGAACACTTCCTCTAACACAGGA...
NM_001353196.1:c.1182+422_1182+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA NP_001340125.1:n.1182+422_1182+423insGACGGAACACTTCCTCTAACACAG...
NM_001353197.1:c.1176+422_1176+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA NP_001340126.1:n.1176+422_1176+423insGACGGAACACTTCCTCTAACACAG...
NM_001353198.1:c.1176+422_1176+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA NP_001340127.1:n.1176+422_1176+423insGACGGAACACTTCCTCTAACACAG...
NM_001353199.1:c.987+422_987+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA NP_001340128.1:n.987+422_987+423insGACGGAACACTTCCTCTAACACAGGA...
NM_001353200.1:c.816+422_816+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA NP_001340129.1:n.816+422_816+423insGACGGAACACTTCCTCTAACACAGGA...
NR_148391.1:n.1322+422_1322+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA
NR_148392.1:n.1540+422_1540+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA
NR_148393.1:n.1322+422_1322+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA
NR_148394.1:n.1215+422_1215+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA
NR_148395.1:n.1474+422_1474+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA
NR_148396.1:n.1108+422_1108+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA
NR_148397.1:n.1372+422_1372+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA
NR_148398.1:n.1327+422_1327+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA
NR_148399.1:n.1714+422_1714+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA
NR_148400.1:n.1313+422_1313+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA
XM_005272162.3:c.141+422_141+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA XP_005272219.1:n.141+422_141+423insGACGGAACACTTCCTCTAACACAGGA...
XM_006716932.2:c.987+422_987+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA XP_006716995.1:n.987+422_987+423insGACGGAACACTTCCTCTAACACAGGA...
XM_011518140.2:c.1191+422_1191+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA XP_011516442.1:n.1191+422_1191+423insGACGGAACACTTCCTCTAACACAG...
XM_011518141.2:c.1125+422_1125+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA XP_011516443.1:n.1125+422_1125+423insGACGGAACACTTCCTCTAACACAG...
XM_011518142.2:c.1029+422_1029+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA XP_011516444.1:n.1029+422_1029+423insGACGGAACACTTCCTCTAACACAG...
XM_011518143.2:c.1023+422_1023+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA XP_011516445.1:n.1023+422_1023+423insGACGGAACACTTCCTCTAACACAG...
XM_011518145.2:c.882+422_882+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA XP_011516447.1:n.882+422_882+423insGACGGAACACTTCCTCTAACACAGGA...
XM_017014205.2:c.141+422_141+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA XP_016869694.1:n.141+422_141+423insGACGGAACACTTCCTCTAACACAGGA...
XM_024447380.1:c.141+422_141+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA XP_024303148.1:n.141+422_141+423insGACGGAACACTTCCTCTAACACAGGA...
XM_024447381.1:c.447+422_447+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA XP_024303149.1:n.447+422_447+423insGACGGAACACTTCCTCTAACACAGGA...
XM_024447382.1:c.141+422_141+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA XP_024303150.1:n.141+422_141+423insGACGGAACACTTCCTCTAACACAGGA...
XR_001746160.2:n.1442+422_1442+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA
XR_001746162.2:n.1508+422_1508+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA
XR_001746164.1:n.1225+422_1225+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA
XR_001746166.2:n.1659+422_1659+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA
NM_001077365.2:c.1272+422_1272+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA MANE Select NP_001070833.1:n.1272+422_1272+423insGACGGAACACTTCCTCTAACACAG...
NM_001077366.2:c.1110+422_1110+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA NP_001070834.1:n.1110+422_1110+423insGACGGAACACTTCCTCTAACACAG...
NM_001136113.2:c.1272+422_1272+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA NP_001129585.1:n.1272+422_1272+423insGACGGAACACTTCCTCTAACACAG...
NM_001136114.2:c.921+422_921+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA NP_001129586.1:n.921+422_921+423insGACGGAACACTTCCTCTAACACAGGA...
NM_001353193.2:c.1338+422_1338+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA NP_001340122.2:n.1338+422_1338+423insGACGGAACACTTCCTCTAACACAG...
NM_001353194.2:c.1110+422_1110+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA NP_001340123.1:n.1110+422_1110+423insGACGGAACACTTCCTCTAACACAG...
NM_001353195.2:c.921+422_921+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA NP_001340124.1:n.921+422_921+423insGACGGAACACTTCCTCTAACACAGGA...
NM_001353196.2:c.1182+422_1182+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA NP_001340125.1:n.1182+422_1182+423insGACGGAACACTTCCTCTAACACAG...
NM_001353197.2:c.1176+422_1176+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA NP_001340126.2:n.1176+422_1176+423insGACGGAACACTTCCTCTAACACAG...
NM_001353198.2:c.1176+422_1176+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA NP_001340127.2:n.1176+422_1176+423insGACGGAACACTTCCTCTAACACAG...
NM_001353199.2:c.987+422_987+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA NP_001340128.2:n.987+422_987+423insGACGGAACACTTCCTCTAACACAGGA...
NM_001353200.2:c.816+422_816+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA NP_001340129.1:n.816+422_816+423insGACGGAACACTTCCTCTAACACAGGA...
NM_001374689.1:c.1260+422_1260+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA NP_001361618.1:n.1260+422_1260+423insGACGGAACACTTCCTCTAACACAG...
NM_001374690.1:c.1272+422_1272+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA NP_001361619.1:n.1272+422_1272+423insGACGGAACACTTCCTCTAACACAG...
NM_001374691.1:c.921+422_921+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA NP_001361620.1:n.921+422_921+423insGACGGAACACTTCCTCTAACACAGGA...
NM_001374692.1:c.921+422_921+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA NP_001361621.1:n.921+422_921+423insGACGGAACACTTCCTCTAACACAGGA...
NM_001374693.1:c.921+422_921+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA NP_001361622.1:n.921+422_921+423insGACGGAACACTTCCTCTAACACAGGA...
NM_001374695.1:c.882+422_882+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA NP_001361624.1:n.882+422_882+423insGACGGAACACTTCCTCTAACACAGGA...
NM_007171.4:c.1338+422_1338+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA NP_009102.4:n.1338+422_1338+423insGACGGAACACTTCCTCTAACACAGGAC...
NR_148391.2:n.1306+422_1306+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA
NR_148392.2:n.1524+422_1524+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA
NR_148393.2:n.1306+422_1306+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA
NR_148394.2:n.1199+422_1199+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA
NR_148395.2:n.1458+422_1458+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA
NR_148396.2:n.1092+422_1092+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA
NR_148397.2:n.1356+422_1356+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA
NR_148398.2:n.1311+422_1311+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA
NR_148399.2:n.1698+422_1698+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA
NR_148400.2:n.1297+422_1297+423insGACGGAACACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCA