Canonical Allele Identifier: CA1881757918
Gene: POMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131515901_131515913delinsCACTTCCTCACAT , CM000671.2:g.131515901_131515913delinsCACTTCCTCACAT GRCh38
NC_000009.11:g.134391288_134391300delinsCACTTCCTCACAT , CM000671.1:g.134391288_134391300delinsCACTTCCTCACAT GRCh37
NC_000009.10:g.133381109_133381121delinsCACTTCCTCACAT NCBI36
NG_008896.1:g.18000_18012delinsCACTTCCTCACAT
NG_008896.2:g.18000_18012delinsCACTTCCTCACAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1110+379_1110+391delinsCACTTCCTCACAT ENSP00000343034.7:n.1110+379_1110+391delinsCACTTCCTCACAT
ENST00000404875.7:n.1812+379_1812+391delinsCACTTCCTCACAT
ENST00000423007.6:c.1329+379_1329+391delinsCACTTCCTCACAT ENSP00000404119.2:n.1329+379_1329+391delinsCACTTCCTCACAT
ENST00000677295.2:c.*1616+379_*1616+391delinsCACTTCCTCACAT ENSP00000504346.2:n.*1616+379_*1616+391delinsCACTTCCTCACAT
ENST00000678264.2:c.*1455+379_*1455+391delinsCACTTCCTCACAT ENSP00000503157.2:n.*1455+379_*1455+391delinsCACTTCCTCACAT
ENST00000682070.1:n.1737+379_1737+391delinsCACTTCCTCACAT
ENST00000682539.1:c.97+379_97+391delinsCACTTCCTCACAT
ENST00000682813.1:n.1537+379_1537+391delinsCACTTCCTCACAT
ENST00000683392.1:n.4019+379_4019+391delinsCACTTCCTCACAT
ENST00000683712.1:n.1677+379_1677+391delinsCACTTCCTCACAT
ENST00000683900.1:n.3172+379_3172+391delinsCACTTCCTCACAT
ENST00000684062.1:n.1938+379_1938+391delinsCACTTCCTCACAT
ENST00000684579.1:n.3118+379_3118+391delinsCACTTCCTCACAT
ENST00000341012.12:c.1110+379_1110+391delinsCACTTCCTCACAT ENSP00000343034.7:n.1110+379_1110+391delinsCACTTCCTCACAT
ENST00000372220.5:c.141+379_141+391delinsCACTTCCTCACAT ENSP00000361294.5:n.141+379_141+391delinsCACTTCCTCACAT
ENST00000372228.9:c.1338+379_1338+391delinsCACTTCCTCACAT ENSP00000361302.3:n.1338+379_1338+391delinsCACTTCCTCACAT
ENST00000402686.8:c.1272+379_1272+391delinsCACTTCCTCACAT MANE Select ENSP00000385797.4:n.1272+379_1272+391delinsCACTTCCTCACAT
ENST00000676640.1:c.1272+379_1272+391delinsCACTTCCTCACAT ENSP00000503281.1:n.1272+379_1272+391delinsCACTTCCTCACAT
ENST00000676803.1:c.447+379_447+391delinsCACTTCCTCACAT ENSP00000503093.1:n.447+379_447+391delinsCACTTCCTCACAT
ENST00000676835.1:c.*487+379_*487+391delinsCACTTCCTCACAT ENSP00000502911.1:n.*487+379_*487+391delinsCACTTCCTCACAT
ENST00000677029.1:c.816+379_816+391delinsCACTTCCTCACAT ENSP00000502936.1:n.816+379_816+391delinsCACTTCCTCACAT
ENST00000677099.1:c.*982+379_*982+391delinsCACTTCCTCACAT ENSP00000504553.1:n.*982+379_*982+391delinsCACTTCCTCACAT
ENST00000677216.1:c.921+379_921+391delinsCACTTCCTCACAT ENSP00000503772.1:n.921+379_921+391delinsCACTTCCTCACAT
ENST00000677295.1:c.*649+379_*649+391delinsCACTTCCTCACAT ENSP00000504346.1:n.*649+379_*649+391delinsCACTTCCTCACAT
ENST00000677444.1:c.1078+379_1078+391delinsCACTTCCTCACAT
ENST00000677586.1:n.753+379_753+391delinsCACTTCCTCACAT
ENST00000677626.1:c.921+379_921+391delinsCACTTCCTCACAT ENSP00000503552.1:n.921+379_921+391delinsCACTTCCTCACAT
ENST00000677677.1:n.1232+379_1232+391delinsCACTTCCTCACAT
ENST00000677853.1:c.*280+379_*280+391delinsCACTTCCTCACAT ENSP00000503488.1:n.*280+379_*280+391delinsCACTTCCTCACAT
ENST00000677944.1:c.534+379_534+391delinsCACTTCCTCACAT
ENST00000678264.1:c.*649+379_*649+391delinsCACTTCCTCACAT ENSP00000503157.1:n.*649+379_*649+391delinsCACTTCCTCACAT
ENST00000678303.1:c.1182+379_1182+391delinsCACTTCCTCACAT ENSP00000503696.1:n.1182+379_1182+391delinsCACTTCCTCACAT
ENST00000678366.1:c.*1521+379_*1521+391delinsCACTTCCTCACAT ENSP00000504353.1:n.*1521+379_*1521+391delinsCACTTCCTCACAT
ENST00000678546.1:c.*1217+379_*1217+391delinsCACTTCCTCACAT ENSP00000503062.1:n.*1217+379_*1217+391delinsCACTTCCTCACAT
ENST00000678548.1:c.*1344+379_*1344+391delinsCACTTCCTCACAT ENSP00000503934.1:n.*1344+379_*1344+391delinsCACTTCCTCACAT
ENST00000678626.1:n.969+379_969+391delinsCACTTCCTCACAT
ENST00000678733.1:c.353+379_353+391delinsCACTTCCTCACAT
ENST00000678739.1:c.*1598+379_*1598+391delinsCACTTCCTCACAT ENSP00000503806.1:n.*1598+379_*1598+391delinsCACTTCCTCACAT
ENST00000678795.1:n.359+379_359+391delinsCACTTCCTCACAT
ENST00000678833.1:c.*719+379_*719+391delinsCACTTCCTCACAT ENSP00000503893.1:n.*719+379_*719+391delinsCACTTCCTCACAT
ENST00000678942.1:c.452+379_452+391delinsCACTTCCTCACAT ENSP00000504690.1:n.452+379_452+391delinsCACTTCCTCACAT
ENST00000679023.1:c.1110+379_1110+391delinsCACTTCCTCACAT ENSP00000503718.1:n.1110+379_1110+391delinsCACTTCCTCACAT
ENST00000679076.1:c.891+379_891+391delinsCACTTCCTCACAT
ENST00000679111.1:c.1272+379_1272+391delinsCACTTCCTCACAT ENSP00000504257.1:n.1272+379_1272+391delinsCACTTCCTCACAT
ENST00000679189.1:c.921+379_921+391delinsCACTTCCTCACAT ENSP00000503356.1:n.921+379_921+391delinsCACTTCCTCACAT
ENST00000341012.11:c.1110+379_1110+391delinsCACTTCCTCACAT ENSP00000343034.7:n.1110+379_1110+391delinsCACTTCCTCACAT
ENST00000372228.7:c.1338+379_1338+391delinsCACTTCCTCACAT ENSP00000361302.3:n.1338+379_1338+391delinsCACTTCCTCACAT
ENST00000402686.7:c.1272+379_1272+391delinsCACTTCCTCACAT ENSP00000385797.3:n.1272+379_1272+391delinsCACTTCCTCACAT
ENST00000404875.6:c.921+379_921+391delinsCACTTCCTCACAT ENSP00000384531.2:n.921+379_921+391delinsCACTTCCTCACAT
ENST00000423007.5:c.1272+379_1272+391delinsCACTTCCTCACAT ENSP00000404119.1:n.1272+379_1272+391delinsCACTTCCTCACAT
ENST00000485278.5:n.1827+379_1827+391delinsCACTTCCTCACAT
NM_001077365.1:c.1272+379_1272+391delinsCACTTCCTCACAT NP_001070833.1:n.1272+379_1272+391delinsCACTTCCTCACAT
NM_001077366.1:c.1110+379_1110+391delinsCACTTCCTCACAT NP_001070834.1:n.1110+379_1110+391delinsCACTTCCTCACAT
NM_001136113.1:c.1272+379_1272+391delinsCACTTCCTCACAT NP_001129585.1:n.1272+379_1272+391delinsCACTTCCTCACAT
NM_001136114.1:c.921+379_921+391delinsCACTTCCTCACAT NP_001129586.1:n.921+379_921+391delinsCACTTCCTCACAT
NM_007171.3:c.1338+379_1338+391delinsCACTTCCTCACAT NP_009102.3:n.1338+379_1338+391delinsCACTTCCTCACAT
XM_005272156.1:c.1338+379_1338+391delinsCACTTCCTCACAT XP_005272213.1:n.1338+379_1338+391delinsCACTTCCTCACAT
XM_005272158.1:c.1176+379_1176+391delinsCACTTCCTCACAT XP_005272215.1:n.1176+379_1176+391delinsCACTTCCTCACAT
XM_005272159.1:c.987+379_987+391delinsCACTTCCTCACAT XP_005272216.1:n.987+379_987+391delinsCACTTCCTCACAT
XM_005272162.1:c.141+379_141+391delinsCACTTCCTCACAT XP_005272219.1:n.141+379_141+391delinsCACTTCCTCACAT
XM_006716932.1:c.987+379_987+391delinsCACTTCCTCACAT XP_006716995.1:n.987+379_987+391delinsCACTTCCTCACAT
XM_011518140.1:c.1191+379_1191+391delinsCACTTCCTCACAT XP_011516442.1:n.1191+379_1191+391delinsCACTTCCTCACAT
XM_011518141.1:c.1125+379_1125+391delinsCACTTCCTCACAT XP_011516443.1:n.1125+379_1125+391delinsCACTTCCTCACAT
XM_011518142.1:c.1029+379_1029+391delinsCACTTCCTCACAT XP_011516444.1:n.1029+379_1029+391delinsCACTTCCTCACAT
XM_011518143.1:c.1023+379_1023+391delinsCACTTCCTCACAT XP_011516445.1:n.1023+379_1023+391delinsCACTTCCTCACAT
XM_011518144.1:c.1338+379_1338+391delinsCACTTCCTCACAT XP_011516446.1:n.1338+379_1338+391delinsCACTTCCTCACAT
XM_011518145.1:c.882+379_882+391delinsCACTTCCTCACAT XP_011516447.1:n.882+379_882+391delinsCACTTCCTCACAT
XM_011518146.1:c.1023+379_1023+391delinsCACTTCCTCACAT XP_011516448.1:n.1023+379_1023+391delinsCACTTCCTCACAT
XR_929703.1:n.1514+379_1514+391delinsCACTTCCTCACAT
NM_001353193.1:c.1338+379_1338+391delinsCACTTCCTCACAT NP_001340122.1:n.1338+379_1338+391delinsCACTTCCTCACAT
NM_001353194.1:c.1110+379_1110+391delinsCACTTCCTCACAT NP_001340123.1:n.1110+379_1110+391delinsCACTTCCTCACAT
NM_001353195.1:c.921+379_921+391delinsCACTTCCTCACAT NP_001340124.1:n.921+379_921+391delinsCACTTCCTCACAT
NM_001353196.1:c.1182+379_1182+391delinsCACTTCCTCACAT NP_001340125.1:n.1182+379_1182+391delinsCACTTCCTCACAT
NM_001353197.1:c.1176+379_1176+391delinsCACTTCCTCACAT NP_001340126.1:n.1176+379_1176+391delinsCACTTCCTCACAT
NM_001353198.1:c.1176+379_1176+391delinsCACTTCCTCACAT NP_001340127.1:n.1176+379_1176+391delinsCACTTCCTCACAT
NM_001353199.1:c.987+379_987+391delinsCACTTCCTCACAT NP_001340128.1:n.987+379_987+391delinsCACTTCCTCACAT
NM_001353200.1:c.816+379_816+391delinsCACTTCCTCACAT NP_001340129.1:n.816+379_816+391delinsCACTTCCTCACAT
NR_148391.1:n.1322+379_1322+391delinsCACTTCCTCACAT
NR_148392.1:n.1540+379_1540+391delinsCACTTCCTCACAT
NR_148393.1:n.1322+379_1322+391delinsCACTTCCTCACAT
NR_148394.1:n.1215+379_1215+391delinsCACTTCCTCACAT
NR_148395.1:n.1474+379_1474+391delinsCACTTCCTCACAT
NR_148396.1:n.1108+379_1108+391delinsCACTTCCTCACAT
NR_148397.1:n.1372+379_1372+391delinsCACTTCCTCACAT
NR_148398.1:n.1327+379_1327+391delinsCACTTCCTCACAT
NR_148399.1:n.1714+379_1714+391delinsCACTTCCTCACAT
NR_148400.1:n.1313+379_1313+391delinsCACTTCCTCACAT
XM_005272162.3:c.141+379_141+391delinsCACTTCCTCACAT XP_005272219.1:n.141+379_141+391delinsCACTTCCTCACAT
XM_006716932.2:c.987+379_987+391delinsCACTTCCTCACAT XP_006716995.1:n.987+379_987+391delinsCACTTCCTCACAT
XM_011518140.2:c.1191+379_1191+391delinsCACTTCCTCACAT XP_011516442.1:n.1191+379_1191+391delinsCACTTCCTCACAT
XM_011518141.2:c.1125+379_1125+391delinsCACTTCCTCACAT XP_011516443.1:n.1125+379_1125+391delinsCACTTCCTCACAT
XM_011518142.2:c.1029+379_1029+391delinsCACTTCCTCACAT XP_011516444.1:n.1029+379_1029+391delinsCACTTCCTCACAT
XM_011518143.2:c.1023+379_1023+391delinsCACTTCCTCACAT XP_011516445.1:n.1023+379_1023+391delinsCACTTCCTCACAT
XM_011518145.2:c.882+379_882+391delinsCACTTCCTCACAT XP_011516447.1:n.882+379_882+391delinsCACTTCCTCACAT
XM_017014205.2:c.141+379_141+391delinsCACTTCCTCACAT XP_016869694.1:n.141+379_141+391delinsCACTTCCTCACAT
XM_024447380.1:c.141+379_141+391delinsCACTTCCTCACAT XP_024303148.1:n.141+379_141+391delinsCACTTCCTCACAT
XM_024447381.1:c.447+379_447+391delinsCACTTCCTCACAT XP_024303149.1:n.447+379_447+391delinsCACTTCCTCACAT
XM_024447382.1:c.141+379_141+391delinsCACTTCCTCACAT XP_024303150.1:n.141+379_141+391delinsCACTTCCTCACAT
XR_001746160.2:n.1442+379_1442+391delinsCACTTCCTCACAT
XR_001746162.2:n.1508+379_1508+391delinsCACTTCCTCACAT
XR_001746164.1:n.1225+379_1225+391delinsCACTTCCTCACAT
XR_001746166.2:n.1659+379_1659+391delinsCACTTCCTCACAT
NM_001077365.2:c.1272+379_1272+391delinsCACTTCCTCACAT MANE Select NP_001070833.1:n.1272+379_1272+391delinsCACTTCCTCACAT
NM_001077366.2:c.1110+379_1110+391delinsCACTTCCTCACAT NP_001070834.1:n.1110+379_1110+391delinsCACTTCCTCACAT
NM_001136113.2:c.1272+379_1272+391delinsCACTTCCTCACAT NP_001129585.1:n.1272+379_1272+391delinsCACTTCCTCACAT
NM_001136114.2:c.921+379_921+391delinsCACTTCCTCACAT NP_001129586.1:n.921+379_921+391delinsCACTTCCTCACAT
NM_001353193.2:c.1338+379_1338+391delinsCACTTCCTCACAT NP_001340122.2:n.1338+379_1338+391delinsCACTTCCTCACAT
NM_001353194.2:c.1110+379_1110+391delinsCACTTCCTCACAT NP_001340123.1:n.1110+379_1110+391delinsCACTTCCTCACAT
NM_001353195.2:c.921+379_921+391delinsCACTTCCTCACAT NP_001340124.1:n.921+379_921+391delinsCACTTCCTCACAT
NM_001353196.2:c.1182+379_1182+391delinsCACTTCCTCACAT NP_001340125.1:n.1182+379_1182+391delinsCACTTCCTCACAT
NM_001353197.2:c.1176+379_1176+391delinsCACTTCCTCACAT NP_001340126.2:n.1176+379_1176+391delinsCACTTCCTCACAT
NM_001353198.2:c.1176+379_1176+391delinsCACTTCCTCACAT NP_001340127.2:n.1176+379_1176+391delinsCACTTCCTCACAT
NM_001353199.2:c.987+379_987+391delinsCACTTCCTCACAT NP_001340128.2:n.987+379_987+391delinsCACTTCCTCACAT
NM_001353200.2:c.816+379_816+391delinsCACTTCCTCACAT NP_001340129.1:n.816+379_816+391delinsCACTTCCTCACAT
NM_001374689.1:c.1260+379_1260+391delinsCACTTCCTCACAT NP_001361618.1:n.1260+379_1260+391delinsCACTTCCTCACAT
NM_001374690.1:c.1272+379_1272+391delinsCACTTCCTCACAT NP_001361619.1:n.1272+379_1272+391delinsCACTTCCTCACAT
NM_001374691.1:c.921+379_921+391delinsCACTTCCTCACAT NP_001361620.1:n.921+379_921+391delinsCACTTCCTCACAT
NM_001374692.1:c.921+379_921+391delinsCACTTCCTCACAT NP_001361621.1:n.921+379_921+391delinsCACTTCCTCACAT
NM_001374693.1:c.921+379_921+391delinsCACTTCCTCACAT NP_001361622.1:n.921+379_921+391delinsCACTTCCTCACAT
NM_001374695.1:c.882+379_882+391delinsCACTTCCTCACAT NP_001361624.1:n.882+379_882+391delinsCACTTCCTCACAT
NM_007171.4:c.1338+379_1338+391delinsCACTTCCTCACAT NP_009102.4:n.1338+379_1338+391delinsCACTTCCTCACAT
NR_148391.2:n.1306+379_1306+391delinsCACTTCCTCACAT
NR_148392.2:n.1524+379_1524+391delinsCACTTCCTCACAT
NR_148393.2:n.1306+379_1306+391delinsCACTTCCTCACAT
NR_148394.2:n.1199+379_1199+391delinsCACTTCCTCACAT
NR_148395.2:n.1458+379_1458+391delinsCACTTCCTCACAT
NR_148396.2:n.1092+379_1092+391delinsCACTTCCTCACAT
NR_148397.2:n.1356+379_1356+391delinsCACTTCCTCACAT
NR_148398.2:n.1311+379_1311+391delinsCACTTCCTCACAT
NR_148399.2:n.1698+379_1698+391delinsCACTTCCTCACAT
NR_148400.2:n.1297+379_1297+391delinsCACTTCCTCACAT