Canonical Allele Identifier: CA1881757362
Gene: POMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131515752_131515771delinsCGGAGCACTTCCTCTAACAT , CM000671.2:g.131515752_131515771delinsCGGAGCACTTCCTCTAACAT GRCh38
NC_000009.11:g.134391139_134391158delinsCGGAGCACTTCCTCTAACAT , CM000671.1:g.134391139_134391158delinsCGGAGCACTTCCTCTAACAT GRCh37
NC_000009.10:g.133380960_133380979delinsCGGAGCACTTCCTCTAACAT NCBI36
NG_008896.1:g.17851_17870delinsCGGAGCACTTCCTCTAACAT
NG_008896.2:g.17851_17870delinsCGGAGCACTTCCTCTAACAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1110+230_1110+249delinsCGGAGCACTTCCTCTAACAT ENSP00000343034.7:n.1110+230_1110+249delinsCGGAGCACTTCCTCTAAC...
ENST00000404875.7:n.1812+230_1812+249delinsCGGAGCACTTCCTCTAACAT
ENST00000423007.6:c.1329+230_1329+249delinsCGGAGCACTTCCTCTAACAT ENSP00000404119.2:n.1329+230_1329+249delinsCGGAGCACTTCCTCTAAC...
ENST00000677295.2:c.*1616+230_*1616+249delinsCGGAGCACTTCCTCTAACAT ENSP00000504346.2:n.*1616+230_*1616+249delinsCGGAGCACTTCCTCTA...
ENST00000678264.2:c.*1455+230_*1455+249delinsCGGAGCACTTCCTCTAACAT ENSP00000503157.2:n.*1455+230_*1455+249delinsCGGAGCACTTCCTCTA...
ENST00000682070.1:n.1737+230_1737+249delinsCGGAGCACTTCCTCTAACAT
ENST00000682539.1:c.97+230_97+249delinsCGGAGCACTTCCTCTAACAT
ENST00000682813.1:n.1537+230_1537+249delinsCGGAGCACTTCCTCTAACAT
ENST00000683392.1:n.4019+230_4019+249delinsCGGAGCACTTCCTCTAACAT
ENST00000683712.1:n.1677+230_1677+249delinsCGGAGCACTTCCTCTAACAT
ENST00000683900.1:n.3172+230_3172+249delinsCGGAGCACTTCCTCTAACAT
ENST00000684062.1:n.1938+230_1938+249delinsCGGAGCACTTCCTCTAACAT
ENST00000684579.1:n.3118+230_3118+249delinsCGGAGCACTTCCTCTAACAT
ENST00000341012.12:c.1110+230_1110+249delinsCGGAGCACTTCCTCTAACAT ENSP00000343034.7:n.1110+230_1110+249delinsCGGAGCACTTCCTCTAAC...
ENST00000372220.5:c.141+230_141+249delinsCGGAGCACTTCCTCTAACAT ENSP00000361294.5:n.141+230_141+249delinsCGGAGCACTTCCTCTAACAT...
ENST00000372228.9:c.1338+230_1338+249delinsCGGAGCACTTCCTCTAACAT ENSP00000361302.3:n.1338+230_1338+249delinsCGGAGCACTTCCTCTAAC...
ENST00000402686.8:c.1272+230_1272+249delinsCGGAGCACTTCCTCTAACAT MANE Select ENSP00000385797.4:n.1272+230_1272+249delinsCGGAGCACTTCCTCTAAC...
ENST00000676640.1:c.1272+230_1272+249delinsCGGAGCACTTCCTCTAACAT ENSP00000503281.1:n.1272+230_1272+249delinsCGGAGCACTTCCTCTAAC...
ENST00000676803.1:c.447+230_447+249delinsCGGAGCACTTCCTCTAACAT ENSP00000503093.1:n.447+230_447+249delinsCGGAGCACTTCCTCTAACAT...
ENST00000676835.1:c.*487+230_*487+249delinsCGGAGCACTTCCTCTAACAT ENSP00000502911.1:n.*487+230_*487+249delinsCGGAGCACTTCCTCTAAC...
ENST00000677029.1:c.816+230_816+249delinsCGGAGCACTTCCTCTAACAT ENSP00000502936.1:n.816+230_816+249delinsCGGAGCACTTCCTCTAACAT...
ENST00000677099.1:c.*982+230_*982+249delinsCGGAGCACTTCCTCTAACAT ENSP00000504553.1:n.*982+230_*982+249delinsCGGAGCACTTCCTCTAAC...
ENST00000677216.1:c.921+230_921+249delinsCGGAGCACTTCCTCTAACAT ENSP00000503772.1:n.921+230_921+249delinsCGGAGCACTTCCTCTAACAT...
ENST00000677295.1:c.*649+230_*649+249delinsCGGAGCACTTCCTCTAACAT ENSP00000504346.1:n.*649+230_*649+249delinsCGGAGCACTTCCTCTAAC...
ENST00000677444.1:c.1078+230_1078+249delinsCGGAGCACTTCCTCTAACAT
ENST00000677586.1:n.753+230_753+249delinsCGGAGCACTTCCTCTAACAT
ENST00000677626.1:c.921+230_921+249delinsCGGAGCACTTCCTCTAACAT ENSP00000503552.1:n.921+230_921+249delinsCGGAGCACTTCCTCTAACAT...
ENST00000677677.1:n.1232+230_1232+249delinsCGGAGCACTTCCTCTAACAT
ENST00000677853.1:c.*280+230_*280+249delinsCGGAGCACTTCCTCTAACAT ENSP00000503488.1:n.*280+230_*280+249delinsCGGAGCACTTCCTCTAAC...
ENST00000677944.1:c.534+230_534+249delinsCGGAGCACTTCCTCTAACAT
ENST00000678264.1:c.*649+230_*649+249delinsCGGAGCACTTCCTCTAACAT ENSP00000503157.1:n.*649+230_*649+249delinsCGGAGCACTTCCTCTAAC...
ENST00000678303.1:c.1182+230_1182+249delinsCGGAGCACTTCCTCTAACAT ENSP00000503696.1:n.1182+230_1182+249delinsCGGAGCACTTCCTCTAAC...
ENST00000678366.1:c.*1521+230_*1521+249delinsCGGAGCACTTCCTCTAACAT ENSP00000504353.1:n.*1521+230_*1521+249delinsCGGAGCACTTCCTCTA...
ENST00000678546.1:c.*1217+230_*1217+249delinsCGGAGCACTTCCTCTAACAT ENSP00000503062.1:n.*1217+230_*1217+249delinsCGGAGCACTTCCTCTA...
ENST00000678548.1:c.*1344+230_*1344+249delinsCGGAGCACTTCCTCTAACAT ENSP00000503934.1:n.*1344+230_*1344+249delinsCGGAGCACTTCCTCTA...
ENST00000678626.1:n.969+230_969+249delinsCGGAGCACTTCCTCTAACAT
ENST00000678733.1:c.353+230_353+249delinsCGGAGCACTTCCTCTAACAT
ENST00000678739.1:c.*1598+230_*1598+249delinsCGGAGCACTTCCTCTAACAT ENSP00000503806.1:n.*1598+230_*1598+249delinsCGGAGCACTTCCTCTA...
ENST00000678795.1:n.359+230_359+249delinsCGGAGCACTTCCTCTAACAT
ENST00000678833.1:c.*719+230_*719+249delinsCGGAGCACTTCCTCTAACAT ENSP00000503893.1:n.*719+230_*719+249delinsCGGAGCACTTCCTCTAAC...
ENST00000678942.1:c.452+230_452+249delinsCGGAGCACTTCCTCTAACAT ENSP00000504690.1:n.452+230_452+249delinsCGGAGCACTTCCTCTAACAT...
ENST00000679023.1:c.1110+230_1110+249delinsCGGAGCACTTCCTCTAACAT ENSP00000503718.1:n.1110+230_1110+249delinsCGGAGCACTTCCTCTAAC...
ENST00000679076.1:c.891+230_891+249delinsCGGAGCACTTCCTCTAACAT
ENST00000679111.1:c.1272+230_1272+249delinsCGGAGCACTTCCTCTAACAT ENSP00000504257.1:n.1272+230_1272+249delinsCGGAGCACTTCCTCTAAC...
ENST00000679189.1:c.921+230_921+249delinsCGGAGCACTTCCTCTAACAT ENSP00000503356.1:n.921+230_921+249delinsCGGAGCACTTCCTCTAACAT...
ENST00000341012.11:c.1110+230_1110+249delinsCGGAGCACTTCCTCTAACAT ENSP00000343034.7:n.1110+230_1110+249delinsCGGAGCACTTCCTCTAAC...
ENST00000372228.7:c.1338+230_1338+249delinsCGGAGCACTTCCTCTAACAT ENSP00000361302.3:n.1338+230_1338+249delinsCGGAGCACTTCCTCTAAC...
ENST00000402686.7:c.1272+230_1272+249delinsCGGAGCACTTCCTCTAACAT ENSP00000385797.3:n.1272+230_1272+249delinsCGGAGCACTTCCTCTAAC...
ENST00000404875.6:c.921+230_921+249delinsCGGAGCACTTCCTCTAACAT ENSP00000384531.2:n.921+230_921+249delinsCGGAGCACTTCCTCTAACAT...
ENST00000423007.5:c.1272+230_1272+249delinsCGGAGCACTTCCTCTAACAT ENSP00000404119.1:n.1272+230_1272+249delinsCGGAGCACTTCCTCTAAC...
ENST00000485278.5:n.1827+230_1827+249delinsCGGAGCACTTCCTCTAACAT
NM_001077365.1:c.1272+230_1272+249delinsCGGAGCACTTCCTCTAACAT NP_001070833.1:n.1272+230_1272+249delinsCGGAGCACTTCCTCTAACAT
NM_001077366.1:c.1110+230_1110+249delinsCGGAGCACTTCCTCTAACAT NP_001070834.1:n.1110+230_1110+249delinsCGGAGCACTTCCTCTAACAT
NM_001136113.1:c.1272+230_1272+249delinsCGGAGCACTTCCTCTAACAT NP_001129585.1:n.1272+230_1272+249delinsCGGAGCACTTCCTCTAACAT
NM_001136114.1:c.921+230_921+249delinsCGGAGCACTTCCTCTAACAT NP_001129586.1:n.921+230_921+249delinsCGGAGCACTTCCTCTAACAT
NM_007171.3:c.1338+230_1338+249delinsCGGAGCACTTCCTCTAACAT NP_009102.3:n.1338+230_1338+249delinsCGGAGCACTTCCTCTAACAT
XM_005272156.1:c.1338+230_1338+249delinsCGGAGCACTTCCTCTAACAT XP_005272213.1:n.1338+230_1338+249delinsCGGAGCACTTCCTCTAACAT
XM_005272158.1:c.1176+230_1176+249delinsCGGAGCACTTCCTCTAACAT XP_005272215.1:n.1176+230_1176+249delinsCGGAGCACTTCCTCTAACAT
XM_005272159.1:c.987+230_987+249delinsCGGAGCACTTCCTCTAACAT XP_005272216.1:n.987+230_987+249delinsCGGAGCACTTCCTCTAACAT
XM_005272162.1:c.141+230_141+249delinsCGGAGCACTTCCTCTAACAT XP_005272219.1:n.141+230_141+249delinsCGGAGCACTTCCTCTAACAT
XM_006716932.1:c.987+230_987+249delinsCGGAGCACTTCCTCTAACAT XP_006716995.1:n.987+230_987+249delinsCGGAGCACTTCCTCTAACAT
XM_011518140.1:c.1191+230_1191+249delinsCGGAGCACTTCCTCTAACAT XP_011516442.1:n.1191+230_1191+249delinsCGGAGCACTTCCTCTAACAT
XM_011518141.1:c.1125+230_1125+249delinsCGGAGCACTTCCTCTAACAT XP_011516443.1:n.1125+230_1125+249delinsCGGAGCACTTCCTCTAACAT
XM_011518142.1:c.1029+230_1029+249delinsCGGAGCACTTCCTCTAACAT XP_011516444.1:n.1029+230_1029+249delinsCGGAGCACTTCCTCTAACAT
XM_011518143.1:c.1023+230_1023+249delinsCGGAGCACTTCCTCTAACAT XP_011516445.1:n.1023+230_1023+249delinsCGGAGCACTTCCTCTAACAT
XM_011518144.1:c.1338+230_1338+249delinsCGGAGCACTTCCTCTAACAT XP_011516446.1:n.1338+230_1338+249delinsCGGAGCACTTCCTCTAACAT
XM_011518145.1:c.882+230_882+249delinsCGGAGCACTTCCTCTAACAT XP_011516447.1:n.882+230_882+249delinsCGGAGCACTTCCTCTAACAT
XM_011518146.1:c.1023+230_1023+249delinsCGGAGCACTTCCTCTAACAT XP_011516448.1:n.1023+230_1023+249delinsCGGAGCACTTCCTCTAACAT
XR_929703.1:n.1514+230_1514+249delinsCGGAGCACTTCCTCTAACAT
NM_001353193.1:c.1338+230_1338+249delinsCGGAGCACTTCCTCTAACAT NP_001340122.1:n.1338+230_1338+249delinsCGGAGCACTTCCTCTAACAT
NM_001353194.1:c.1110+230_1110+249delinsCGGAGCACTTCCTCTAACAT NP_001340123.1:n.1110+230_1110+249delinsCGGAGCACTTCCTCTAACAT
NM_001353195.1:c.921+230_921+249delinsCGGAGCACTTCCTCTAACAT NP_001340124.1:n.921+230_921+249delinsCGGAGCACTTCCTCTAACAT
NM_001353196.1:c.1182+230_1182+249delinsCGGAGCACTTCCTCTAACAT NP_001340125.1:n.1182+230_1182+249delinsCGGAGCACTTCCTCTAACAT
NM_001353197.1:c.1176+230_1176+249delinsCGGAGCACTTCCTCTAACAT NP_001340126.1:n.1176+230_1176+249delinsCGGAGCACTTCCTCTAACAT
NM_001353198.1:c.1176+230_1176+249delinsCGGAGCACTTCCTCTAACAT NP_001340127.1:n.1176+230_1176+249delinsCGGAGCACTTCCTCTAACAT
NM_001353199.1:c.987+230_987+249delinsCGGAGCACTTCCTCTAACAT NP_001340128.1:n.987+230_987+249delinsCGGAGCACTTCCTCTAACAT
NM_001353200.1:c.816+230_816+249delinsCGGAGCACTTCCTCTAACAT NP_001340129.1:n.816+230_816+249delinsCGGAGCACTTCCTCTAACAT
NR_148391.1:n.1322+230_1322+249delinsCGGAGCACTTCCTCTAACAT
NR_148392.1:n.1540+230_1540+249delinsCGGAGCACTTCCTCTAACAT
NR_148393.1:n.1322+230_1322+249delinsCGGAGCACTTCCTCTAACAT
NR_148394.1:n.1215+230_1215+249delinsCGGAGCACTTCCTCTAACAT
NR_148395.1:n.1474+230_1474+249delinsCGGAGCACTTCCTCTAACAT
NR_148396.1:n.1108+230_1108+249delinsCGGAGCACTTCCTCTAACAT
NR_148397.1:n.1372+230_1372+249delinsCGGAGCACTTCCTCTAACAT
NR_148398.1:n.1327+230_1327+249delinsCGGAGCACTTCCTCTAACAT
NR_148399.1:n.1714+230_1714+249delinsCGGAGCACTTCCTCTAACAT
NR_148400.1:n.1313+230_1313+249delinsCGGAGCACTTCCTCTAACAT
XM_005272162.3:c.141+230_141+249delinsCGGAGCACTTCCTCTAACAT XP_005272219.1:n.141+230_141+249delinsCGGAGCACTTCCTCTAACAT
XM_006716932.2:c.987+230_987+249delinsCGGAGCACTTCCTCTAACAT XP_006716995.1:n.987+230_987+249delinsCGGAGCACTTCCTCTAACAT
XM_011518140.2:c.1191+230_1191+249delinsCGGAGCACTTCCTCTAACAT XP_011516442.1:n.1191+230_1191+249delinsCGGAGCACTTCCTCTAACAT
XM_011518141.2:c.1125+230_1125+249delinsCGGAGCACTTCCTCTAACAT XP_011516443.1:n.1125+230_1125+249delinsCGGAGCACTTCCTCTAACAT
XM_011518142.2:c.1029+230_1029+249delinsCGGAGCACTTCCTCTAACAT XP_011516444.1:n.1029+230_1029+249delinsCGGAGCACTTCCTCTAACAT
XM_011518143.2:c.1023+230_1023+249delinsCGGAGCACTTCCTCTAACAT XP_011516445.1:n.1023+230_1023+249delinsCGGAGCACTTCCTCTAACAT
XM_011518145.2:c.882+230_882+249delinsCGGAGCACTTCCTCTAACAT XP_011516447.1:n.882+230_882+249delinsCGGAGCACTTCCTCTAACAT
XM_017014205.2:c.141+230_141+249delinsCGGAGCACTTCCTCTAACAT XP_016869694.1:n.141+230_141+249delinsCGGAGCACTTCCTCTAACAT
XM_024447380.1:c.141+230_141+249delinsCGGAGCACTTCCTCTAACAT XP_024303148.1:n.141+230_141+249delinsCGGAGCACTTCCTCTAACAT
XM_024447381.1:c.447+230_447+249delinsCGGAGCACTTCCTCTAACAT XP_024303149.1:n.447+230_447+249delinsCGGAGCACTTCCTCTAACAT
XM_024447382.1:c.141+230_141+249delinsCGGAGCACTTCCTCTAACAT XP_024303150.1:n.141+230_141+249delinsCGGAGCACTTCCTCTAACAT
XR_001746160.2:n.1442+230_1442+249delinsCGGAGCACTTCCTCTAACAT
XR_001746162.2:n.1508+230_1508+249delinsCGGAGCACTTCCTCTAACAT
XR_001746164.1:n.1225+230_1225+249delinsCGGAGCACTTCCTCTAACAT
XR_001746166.2:n.1659+230_1659+249delinsCGGAGCACTTCCTCTAACAT
NM_001077365.2:c.1272+230_1272+249delinsCGGAGCACTTCCTCTAACAT MANE Select NP_001070833.1:n.1272+230_1272+249delinsCGGAGCACTTCCTCTAACAT
NM_001077366.2:c.1110+230_1110+249delinsCGGAGCACTTCCTCTAACAT NP_001070834.1:n.1110+230_1110+249delinsCGGAGCACTTCCTCTAACAT
NM_001136113.2:c.1272+230_1272+249delinsCGGAGCACTTCCTCTAACAT NP_001129585.1:n.1272+230_1272+249delinsCGGAGCACTTCCTCTAACAT
NM_001136114.2:c.921+230_921+249delinsCGGAGCACTTCCTCTAACAT NP_001129586.1:n.921+230_921+249delinsCGGAGCACTTCCTCTAACAT
NM_001353193.2:c.1338+230_1338+249delinsCGGAGCACTTCCTCTAACAT NP_001340122.2:n.1338+230_1338+249delinsCGGAGCACTTCCTCTAACAT
NM_001353194.2:c.1110+230_1110+249delinsCGGAGCACTTCCTCTAACAT NP_001340123.1:n.1110+230_1110+249delinsCGGAGCACTTCCTCTAACAT
NM_001353195.2:c.921+230_921+249delinsCGGAGCACTTCCTCTAACAT NP_001340124.1:n.921+230_921+249delinsCGGAGCACTTCCTCTAACAT
NM_001353196.2:c.1182+230_1182+249delinsCGGAGCACTTCCTCTAACAT NP_001340125.1:n.1182+230_1182+249delinsCGGAGCACTTCCTCTAACAT
NM_001353197.2:c.1176+230_1176+249delinsCGGAGCACTTCCTCTAACAT NP_001340126.2:n.1176+230_1176+249delinsCGGAGCACTTCCTCTAACAT
NM_001353198.2:c.1176+230_1176+249delinsCGGAGCACTTCCTCTAACAT NP_001340127.2:n.1176+230_1176+249delinsCGGAGCACTTCCTCTAACAT
NM_001353199.2:c.987+230_987+249delinsCGGAGCACTTCCTCTAACAT NP_001340128.2:n.987+230_987+249delinsCGGAGCACTTCCTCTAACAT
NM_001353200.2:c.816+230_816+249delinsCGGAGCACTTCCTCTAACAT NP_001340129.1:n.816+230_816+249delinsCGGAGCACTTCCTCTAACAT
NM_001374689.1:c.1260+230_1260+249delinsCGGAGCACTTCCTCTAACAT NP_001361618.1:n.1260+230_1260+249delinsCGGAGCACTTCCTCTAACAT
NM_001374690.1:c.1272+230_1272+249delinsCGGAGCACTTCCTCTAACAT NP_001361619.1:n.1272+230_1272+249delinsCGGAGCACTTCCTCTAACAT
NM_001374691.1:c.921+230_921+249delinsCGGAGCACTTCCTCTAACAT NP_001361620.1:n.921+230_921+249delinsCGGAGCACTTCCTCTAACAT
NM_001374692.1:c.921+230_921+249delinsCGGAGCACTTCCTCTAACAT NP_001361621.1:n.921+230_921+249delinsCGGAGCACTTCCTCTAACAT
NM_001374693.1:c.921+230_921+249delinsCGGAGCACTTCCTCTAACAT NP_001361622.1:n.921+230_921+249delinsCGGAGCACTTCCTCTAACAT
NM_001374695.1:c.882+230_882+249delinsCGGAGCACTTCCTCTAACAT NP_001361624.1:n.882+230_882+249delinsCGGAGCACTTCCTCTAACAT
NM_007171.4:c.1338+230_1338+249delinsCGGAGCACTTCCTCTAACAT NP_009102.4:n.1338+230_1338+249delinsCGGAGCACTTCCTCTAACAT
NR_148391.2:n.1306+230_1306+249delinsCGGAGCACTTCCTCTAACAT
NR_148392.2:n.1524+230_1524+249delinsCGGAGCACTTCCTCTAACAT
NR_148393.2:n.1306+230_1306+249delinsCGGAGCACTTCCTCTAACAT
NR_148394.2:n.1199+230_1199+249delinsCGGAGCACTTCCTCTAACAT
NR_148395.2:n.1458+230_1458+249delinsCGGAGCACTTCCTCTAACAT
NR_148396.2:n.1092+230_1092+249delinsCGGAGCACTTCCTCTAACAT
NR_148397.2:n.1356+230_1356+249delinsCGGAGCACTTCCTCTAACAT
NR_148398.2:n.1311+230_1311+249delinsCGGAGCACTTCCTCTAACAT
NR_148399.2:n.1698+230_1698+249delinsCGGAGCACTTCCTCTAACAT
NR_148400.2:n.1297+230_1297+249delinsCGGAGCACTTCCTCTAACAT