Canonical Allele Identifier: CA1881757225
Gene: POMT1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131515717_131515718delinsAC , CM000671.2:g.131515717_131515718delinsAC GRCh38
NC_000009.11:g.134391104_134391105delinsAC , CM000671.1:g.134391104_134391105delinsAC GRCh37
NC_000009.10:g.133380925_133380926delinsAC NCBI36
NG_008896.1:g.17816_17817delinsAC
NG_008896.2:g.17816_17817delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1110+195_1110+196delinsAC ENSP00000343034.7:n.1110+195_1110+196delinsAC
ENST00000404875.7:n.1812+195_1812+196delinsAC
ENST00000423007.6:c.1329+195_1329+196delinsAC ENSP00000404119.2:n.1329+195_1329+196delinsAC
ENST00000677295.2:c.*1616+195_*1616+196delinsAC ENSP00000504346.2:n.*1616+195_*1616+196delinsAC
ENST00000678264.2:c.*1455+195_*1455+196delinsAC ENSP00000503157.2:n.*1455+195_*1455+196delinsAC
ENST00000682070.1:n.1737+195_1737+196delinsAC
ENST00000682539.1:c.97+195_97+196delinsAC
ENST00000682813.1:n.1537+195_1537+196delinsAC
ENST00000683392.1:n.4019+195_4019+196delinsAC
ENST00000683712.1:n.1677+195_1677+196delinsAC
ENST00000683900.1:n.3172+195_3172+196delinsAC
ENST00000684062.1:n.1938+195_1938+196delinsAC
ENST00000684579.1:n.3118+195_3118+196delinsAC
ENST00000341012.12:c.1110+195_1110+196delinsAC ENSP00000343034.7:n.1110+195_1110+196delinsAC
ENST00000372220.5:c.141+195_141+196delinsAC ENSP00000361294.5:n.141+195_141+196delinsAC
ENST00000372228.9:c.1338+195_1338+196delinsAC ENSP00000361302.3:n.1338+195_1338+196delinsAC
ENST00000402686.8:c.1272+195_1272+196delinsAC MANE Select ENSP00000385797.4:n.1272+195_1272+196delinsAC
ENST00000676640.1:c.1272+195_1272+196delinsAC ENSP00000503281.1:n.1272+195_1272+196delinsAC
ENST00000676803.1:c.447+195_447+196delinsAC ENSP00000503093.1:n.447+195_447+196delinsAC
ENST00000676835.1:c.*487+195_*487+196delinsAC ENSP00000502911.1:n.*487+195_*487+196delinsAC
ENST00000677029.1:c.816+195_816+196delinsAC ENSP00000502936.1:n.816+195_816+196delinsAC
ENST00000677099.1:c.*982+195_*982+196delinsAC ENSP00000504553.1:n.*982+195_*982+196delinsAC
ENST00000677216.1:c.921+195_921+196delinsAC ENSP00000503772.1:n.921+195_921+196delinsAC
ENST00000677295.1:c.*649+195_*649+196delinsAC ENSP00000504346.1:n.*649+195_*649+196delinsAC
ENST00000677444.1:c.1078+195_1078+196delinsAC
ENST00000677586.1:n.753+195_753+196delinsAC
ENST00000677626.1:c.921+195_921+196delinsAC ENSP00000503552.1:n.921+195_921+196delinsAC
ENST00000677677.1:n.1232+195_1232+196delinsAC
ENST00000677853.1:c.*280+195_*280+196delinsAC ENSP00000503488.1:n.*280+195_*280+196delinsAC
ENST00000677944.1:c.534+195_534+196delinsAC
ENST00000678264.1:c.*649+195_*649+196delinsAC ENSP00000503157.1:n.*649+195_*649+196delinsAC
ENST00000678303.1:c.1182+195_1182+196delinsAC ENSP00000503696.1:n.1182+195_1182+196delinsAC
ENST00000678366.1:c.*1521+195_*1521+196delinsAC ENSP00000504353.1:n.*1521+195_*1521+196delinsAC
ENST00000678546.1:c.*1217+195_*1217+196delinsAC ENSP00000503062.1:n.*1217+195_*1217+196delinsAC
ENST00000678548.1:c.*1344+195_*1344+196delinsAC ENSP00000503934.1:n.*1344+195_*1344+196delinsAC
ENST00000678626.1:n.969+195_969+196delinsAC
ENST00000678733.1:c.353+195_353+196delinsAC
ENST00000678739.1:c.*1598+195_*1598+196delinsAC ENSP00000503806.1:n.*1598+195_*1598+196delinsAC
ENST00000678795.1:n.359+195_359+196delinsAC
ENST00000678833.1:c.*719+195_*719+196delinsAC ENSP00000503893.1:n.*719+195_*719+196delinsAC
ENST00000678942.1:c.452+195_452+196delinsAC ENSP00000504690.1:n.452+195_452+196delinsAC
ENST00000679023.1:c.1110+195_1110+196delinsAC ENSP00000503718.1:n.1110+195_1110+196delinsAC
ENST00000679076.1:c.891+195_891+196delinsAC
ENST00000679111.1:c.1272+195_1272+196delinsAC ENSP00000504257.1:n.1272+195_1272+196delinsAC
ENST00000679189.1:c.921+195_921+196delinsAC ENSP00000503356.1:n.921+195_921+196delinsAC
ENST00000341012.11:c.1110+195_1110+196delinsAC ENSP00000343034.7:n.1110+195_1110+196delinsAC
ENST00000372228.7:c.1338+195_1338+196delinsAC ENSP00000361302.3:n.1338+195_1338+196delinsAC
ENST00000402686.7:c.1272+195_1272+196delinsAC ENSP00000385797.3:n.1272+195_1272+196delinsAC
ENST00000404875.6:c.921+195_921+196delinsAC ENSP00000384531.2:n.921+195_921+196delinsAC
ENST00000423007.5:c.1272+195_1272+196delinsAC ENSP00000404119.1:n.1272+195_1272+196delinsAC
ENST00000485278.5:n.1827+195_1827+196delinsAC
NM_001077365.1:c.1272+195_1272+196delinsAC NP_001070833.1:n.1272+195_1272+196delinsAC
NM_001077366.1:c.1110+195_1110+196delinsAC NP_001070834.1:n.1110+195_1110+196delinsAC
NM_001136113.1:c.1272+195_1272+196delinsAC NP_001129585.1:n.1272+195_1272+196delinsAC
NM_001136114.1:c.921+195_921+196delinsAC NP_001129586.1:n.921+195_921+196delinsAC
NM_007171.3:c.1338+195_1338+196delinsAC NP_009102.3:n.1338+195_1338+196delinsAC
XM_005272156.1:c.1338+195_1338+196delinsAC XP_005272213.1:n.1338+195_1338+196delinsAC
XM_005272158.1:c.1176+195_1176+196delinsAC XP_005272215.1:n.1176+195_1176+196delinsAC
XM_005272159.1:c.987+195_987+196delinsAC XP_005272216.1:n.987+195_987+196delinsAC
XM_005272162.1:c.141+195_141+196delinsAC XP_005272219.1:n.141+195_141+196delinsAC
XM_006716932.1:c.987+195_987+196delinsAC XP_006716995.1:n.987+195_987+196delinsAC
XM_011518140.1:c.1191+195_1191+196delinsAC XP_011516442.1:n.1191+195_1191+196delinsAC
XM_011518141.1:c.1125+195_1125+196delinsAC XP_011516443.1:n.1125+195_1125+196delinsAC
XM_011518142.1:c.1029+195_1029+196delinsAC XP_011516444.1:n.1029+195_1029+196delinsAC
XM_011518143.1:c.1023+195_1023+196delinsAC XP_011516445.1:n.1023+195_1023+196delinsAC
XM_011518144.1:c.1338+195_1338+196delinsAC XP_011516446.1:n.1338+195_1338+196delinsAC
XM_011518145.1:c.882+195_882+196delinsAC XP_011516447.1:n.882+195_882+196delinsAC
XM_011518146.1:c.1023+195_1023+196delinsAC XP_011516448.1:n.1023+195_1023+196delinsAC
XR_929703.1:n.1514+195_1514+196delinsAC
NM_001353193.1:c.1338+195_1338+196delinsAC NP_001340122.1:n.1338+195_1338+196delinsAC
NM_001353194.1:c.1110+195_1110+196delinsAC NP_001340123.1:n.1110+195_1110+196delinsAC
NM_001353195.1:c.921+195_921+196delinsAC NP_001340124.1:n.921+195_921+196delinsAC
NM_001353196.1:c.1182+195_1182+196delinsAC NP_001340125.1:n.1182+195_1182+196delinsAC
NM_001353197.1:c.1176+195_1176+196delinsAC NP_001340126.1:n.1176+195_1176+196delinsAC
NM_001353198.1:c.1176+195_1176+196delinsAC NP_001340127.1:n.1176+195_1176+196delinsAC
NM_001353199.1:c.987+195_987+196delinsAC NP_001340128.1:n.987+195_987+196delinsAC
NM_001353200.1:c.816+195_816+196delinsAC NP_001340129.1:n.816+195_816+196delinsAC
NR_148391.1:n.1322+195_1322+196delinsAC
NR_148392.1:n.1540+195_1540+196delinsAC
NR_148393.1:n.1322+195_1322+196delinsAC
NR_148394.1:n.1215+195_1215+196delinsAC
NR_148395.1:n.1474+195_1474+196delinsAC
NR_148396.1:n.1108+195_1108+196delinsAC
NR_148397.1:n.1372+195_1372+196delinsAC
NR_148398.1:n.1327+195_1327+196delinsAC
NR_148399.1:n.1714+195_1714+196delinsAC
NR_148400.1:n.1313+195_1313+196delinsAC
XM_005272162.3:c.141+195_141+196delinsAC XP_005272219.1:n.141+195_141+196delinsAC
XM_006716932.2:c.987+195_987+196delinsAC XP_006716995.1:n.987+195_987+196delinsAC
XM_011518140.2:c.1191+195_1191+196delinsAC XP_011516442.1:n.1191+195_1191+196delinsAC
XM_011518141.2:c.1125+195_1125+196delinsAC XP_011516443.1:n.1125+195_1125+196delinsAC
XM_011518142.2:c.1029+195_1029+196delinsAC XP_011516444.1:n.1029+195_1029+196delinsAC
XM_011518143.2:c.1023+195_1023+196delinsAC XP_011516445.1:n.1023+195_1023+196delinsAC
XM_011518145.2:c.882+195_882+196delinsAC XP_011516447.1:n.882+195_882+196delinsAC
XM_017014205.2:c.141+195_141+196delinsAC XP_016869694.1:n.141+195_141+196delinsAC
XM_024447380.1:c.141+195_141+196delinsAC XP_024303148.1:n.141+195_141+196delinsAC
XM_024447381.1:c.447+195_447+196delinsAC XP_024303149.1:n.447+195_447+196delinsAC
XM_024447382.1:c.141+195_141+196delinsAC XP_024303150.1:n.141+195_141+196delinsAC
XR_001746160.2:n.1442+195_1442+196delinsAC
XR_001746162.2:n.1508+195_1508+196delinsAC
XR_001746164.1:n.1225+195_1225+196delinsAC
XR_001746166.2:n.1659+195_1659+196delinsAC
NM_001077365.2:c.1272+195_1272+196delinsAC MANE Select NP_001070833.1:n.1272+195_1272+196delinsAC
NM_001077366.2:c.1110+195_1110+196delinsAC NP_001070834.1:n.1110+195_1110+196delinsAC
NM_001136113.2:c.1272+195_1272+196delinsAC NP_001129585.1:n.1272+195_1272+196delinsAC
NM_001136114.2:c.921+195_921+196delinsAC NP_001129586.1:n.921+195_921+196delinsAC
NM_001353193.2:c.1338+195_1338+196delinsAC NP_001340122.2:n.1338+195_1338+196delinsAC
NM_001353194.2:c.1110+195_1110+196delinsAC NP_001340123.1:n.1110+195_1110+196delinsAC
NM_001353195.2:c.921+195_921+196delinsAC NP_001340124.1:n.921+195_921+196delinsAC
NM_001353196.2:c.1182+195_1182+196delinsAC NP_001340125.1:n.1182+195_1182+196delinsAC
NM_001353197.2:c.1176+195_1176+196delinsAC NP_001340126.2:n.1176+195_1176+196delinsAC
NM_001353198.2:c.1176+195_1176+196delinsAC NP_001340127.2:n.1176+195_1176+196delinsAC
NM_001353199.2:c.987+195_987+196delinsAC NP_001340128.2:n.987+195_987+196delinsAC
NM_001353200.2:c.816+195_816+196delinsAC NP_001340129.1:n.816+195_816+196delinsAC
NM_001374689.1:c.1260+195_1260+196delinsAC NP_001361618.1:n.1260+195_1260+196delinsAC
NM_001374690.1:c.1272+195_1272+196delinsAC NP_001361619.1:n.1272+195_1272+196delinsAC
NM_001374691.1:c.921+195_921+196delinsAC NP_001361620.1:n.921+195_921+196delinsAC
NM_001374692.1:c.921+195_921+196delinsAC NP_001361621.1:n.921+195_921+196delinsAC
NM_001374693.1:c.921+195_921+196delinsAC NP_001361622.1:n.921+195_921+196delinsAC
NM_001374695.1:c.882+195_882+196delinsAC NP_001361624.1:n.882+195_882+196delinsAC
NM_007171.4:c.1338+195_1338+196delinsAC NP_009102.4:n.1338+195_1338+196delinsAC
NR_148391.2:n.1306+195_1306+196delinsAC
NR_148392.2:n.1524+195_1524+196delinsAC
NR_148393.2:n.1306+195_1306+196delinsAC
NR_148394.2:n.1199+195_1199+196delinsAC
NR_148395.2:n.1458+195_1458+196delinsAC
NR_148396.2:n.1092+195_1092+196delinsAC
NR_148397.2:n.1356+195_1356+196delinsAC
NR_148398.2:n.1311+195_1311+196delinsAC
NR_148399.2:n.1698+195_1698+196delinsAC
NR_148400.2:n.1297+195_1297+196delinsAC
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