Canonical Allele Identifier: CA1881757695
Gene: POMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131515822_131515824delinsAAC , CM000671.2:g.131515822_131515824delinsAAC GRCh38
NC_000009.11:g.134391209_134391211delinsAAC , CM000671.1:g.134391209_134391211delinsAAC GRCh37
NC_000009.10:g.133381030_133381032delinsAAC NCBI36
NG_008896.1:g.17921_17923delinsAAC
NG_008896.2:g.17921_17923delinsAAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1110+300_1110+302delinsAAC ENSP00000343034.7:n.1110+300_1110+302delinsAAC
ENST00000404875.7:n.1812+300_1812+302delinsAAC
ENST00000423007.6:c.1329+300_1329+302delinsAAC ENSP00000404119.2:n.1329+300_1329+302delinsAAC
ENST00000677295.2:c.*1616+300_*1616+302delinsAAC ENSP00000504346.2:n.*1616+300_*1616+302delinsAAC
ENST00000678264.2:c.*1455+300_*1455+302delinsAAC ENSP00000503157.2:n.*1455+300_*1455+302delinsAAC
ENST00000682070.1:n.1737+300_1737+302delinsAAC
ENST00000682539.1:c.97+300_97+302delinsAAC
ENST00000682813.1:n.1537+300_1537+302delinsAAC
ENST00000683392.1:n.4019+300_4019+302delinsAAC
ENST00000683712.1:n.1677+300_1677+302delinsAAC
ENST00000683900.1:n.3172+300_3172+302delinsAAC
ENST00000684062.1:n.1938+300_1938+302delinsAAC
ENST00000684579.1:n.3118+300_3118+302delinsAAC
ENST00000341012.12:c.1110+300_1110+302delinsAAC ENSP00000343034.7:n.1110+300_1110+302delinsAAC
ENST00000372220.5:c.141+300_141+302delinsAAC ENSP00000361294.5:n.141+300_141+302delinsAAC
ENST00000372228.9:c.1338+300_1338+302delinsAAC ENSP00000361302.3:n.1338+300_1338+302delinsAAC
ENST00000402686.8:c.1272+300_1272+302delinsAAC MANE Select ENSP00000385797.4:n.1272+300_1272+302delinsAAC
ENST00000676640.1:c.1272+300_1272+302delinsAAC ENSP00000503281.1:n.1272+300_1272+302delinsAAC
ENST00000676803.1:c.447+300_447+302delinsAAC ENSP00000503093.1:n.447+300_447+302delinsAAC
ENST00000676835.1:c.*487+300_*487+302delinsAAC ENSP00000502911.1:n.*487+300_*487+302delinsAAC
ENST00000677029.1:c.816+300_816+302delinsAAC ENSP00000502936.1:n.816+300_816+302delinsAAC
ENST00000677099.1:c.*982+300_*982+302delinsAAC ENSP00000504553.1:n.*982+300_*982+302delinsAAC
ENST00000677216.1:c.921+300_921+302delinsAAC ENSP00000503772.1:n.921+300_921+302delinsAAC
ENST00000677295.1:c.*649+300_*649+302delinsAAC ENSP00000504346.1:n.*649+300_*649+302delinsAAC
ENST00000677444.1:c.1078+300_1078+302delinsAAC
ENST00000677586.1:n.753+300_753+302delinsAAC
ENST00000677626.1:c.921+300_921+302delinsAAC ENSP00000503552.1:n.921+300_921+302delinsAAC
ENST00000677677.1:n.1232+300_1232+302delinsAAC
ENST00000677853.1:c.*280+300_*280+302delinsAAC ENSP00000503488.1:n.*280+300_*280+302delinsAAC
ENST00000677944.1:c.534+300_534+302delinsAAC
ENST00000678264.1:c.*649+300_*649+302delinsAAC ENSP00000503157.1:n.*649+300_*649+302delinsAAC
ENST00000678303.1:c.1182+300_1182+302delinsAAC ENSP00000503696.1:n.1182+300_1182+302delinsAAC
ENST00000678366.1:c.*1521+300_*1521+302delinsAAC ENSP00000504353.1:n.*1521+300_*1521+302delinsAAC
ENST00000678546.1:c.*1217+300_*1217+302delinsAAC ENSP00000503062.1:n.*1217+300_*1217+302delinsAAC
ENST00000678548.1:c.*1344+300_*1344+302delinsAAC ENSP00000503934.1:n.*1344+300_*1344+302delinsAAC
ENST00000678626.1:n.969+300_969+302delinsAAC
ENST00000678733.1:c.353+300_353+302delinsAAC
ENST00000678739.1:c.*1598+300_*1598+302delinsAAC ENSP00000503806.1:n.*1598+300_*1598+302delinsAAC
ENST00000678795.1:n.359+300_359+302delinsAAC
ENST00000678833.1:c.*719+300_*719+302delinsAAC ENSP00000503893.1:n.*719+300_*719+302delinsAAC
ENST00000678942.1:c.452+300_452+302delinsAAC ENSP00000504690.1:n.452+300_452+302delinsAAC
ENST00000679023.1:c.1110+300_1110+302delinsAAC ENSP00000503718.1:n.1110+300_1110+302delinsAAC
ENST00000679076.1:c.891+300_891+302delinsAAC
ENST00000679111.1:c.1272+300_1272+302delinsAAC ENSP00000504257.1:n.1272+300_1272+302delinsAAC
ENST00000679189.1:c.921+300_921+302delinsAAC ENSP00000503356.1:n.921+300_921+302delinsAAC
ENST00000341012.11:c.1110+300_1110+302delinsAAC ENSP00000343034.7:n.1110+300_1110+302delinsAAC
ENST00000372228.7:c.1338+300_1338+302delinsAAC ENSP00000361302.3:n.1338+300_1338+302delinsAAC
ENST00000402686.7:c.1272+300_1272+302delinsAAC ENSP00000385797.3:n.1272+300_1272+302delinsAAC
ENST00000404875.6:c.921+300_921+302delinsAAC ENSP00000384531.2:n.921+300_921+302delinsAAC
ENST00000423007.5:c.1272+300_1272+302delinsAAC ENSP00000404119.1:n.1272+300_1272+302delinsAAC
ENST00000485278.5:n.1827+300_1827+302delinsAAC
NM_001077365.1:c.1272+300_1272+302delinsAAC NP_001070833.1:n.1272+300_1272+302delinsAAC
NM_001077366.1:c.1110+300_1110+302delinsAAC NP_001070834.1:n.1110+300_1110+302delinsAAC
NM_001136113.1:c.1272+300_1272+302delinsAAC NP_001129585.1:n.1272+300_1272+302delinsAAC
NM_001136114.1:c.921+300_921+302delinsAAC NP_001129586.1:n.921+300_921+302delinsAAC
NM_007171.3:c.1338+300_1338+302delinsAAC NP_009102.3:n.1338+300_1338+302delinsAAC
XM_005272156.1:c.1338+300_1338+302delinsAAC XP_005272213.1:n.1338+300_1338+302delinsAAC
XM_005272158.1:c.1176+300_1176+302delinsAAC XP_005272215.1:n.1176+300_1176+302delinsAAC
XM_005272159.1:c.987+300_987+302delinsAAC XP_005272216.1:n.987+300_987+302delinsAAC
XM_005272162.1:c.141+300_141+302delinsAAC XP_005272219.1:n.141+300_141+302delinsAAC
XM_006716932.1:c.987+300_987+302delinsAAC XP_006716995.1:n.987+300_987+302delinsAAC
XM_011518140.1:c.1191+300_1191+302delinsAAC XP_011516442.1:n.1191+300_1191+302delinsAAC
XM_011518141.1:c.1125+300_1125+302delinsAAC XP_011516443.1:n.1125+300_1125+302delinsAAC
XM_011518142.1:c.1029+300_1029+302delinsAAC XP_011516444.1:n.1029+300_1029+302delinsAAC
XM_011518143.1:c.1023+300_1023+302delinsAAC XP_011516445.1:n.1023+300_1023+302delinsAAC
XM_011518144.1:c.1338+300_1338+302delinsAAC XP_011516446.1:n.1338+300_1338+302delinsAAC
XM_011518145.1:c.882+300_882+302delinsAAC XP_011516447.1:n.882+300_882+302delinsAAC
XM_011518146.1:c.1023+300_1023+302delinsAAC XP_011516448.1:n.1023+300_1023+302delinsAAC
XR_929703.1:n.1514+300_1514+302delinsAAC
NM_001353193.1:c.1338+300_1338+302delinsAAC NP_001340122.1:n.1338+300_1338+302delinsAAC
NM_001353194.1:c.1110+300_1110+302delinsAAC NP_001340123.1:n.1110+300_1110+302delinsAAC
NM_001353195.1:c.921+300_921+302delinsAAC NP_001340124.1:n.921+300_921+302delinsAAC
NM_001353196.1:c.1182+300_1182+302delinsAAC NP_001340125.1:n.1182+300_1182+302delinsAAC
NM_001353197.1:c.1176+300_1176+302delinsAAC NP_001340126.1:n.1176+300_1176+302delinsAAC
NM_001353198.1:c.1176+300_1176+302delinsAAC NP_001340127.1:n.1176+300_1176+302delinsAAC
NM_001353199.1:c.987+300_987+302delinsAAC NP_001340128.1:n.987+300_987+302delinsAAC
NM_001353200.1:c.816+300_816+302delinsAAC NP_001340129.1:n.816+300_816+302delinsAAC
NR_148391.1:n.1322+300_1322+302delinsAAC
NR_148392.1:n.1540+300_1540+302delinsAAC
NR_148393.1:n.1322+300_1322+302delinsAAC
NR_148394.1:n.1215+300_1215+302delinsAAC
NR_148395.1:n.1474+300_1474+302delinsAAC
NR_148396.1:n.1108+300_1108+302delinsAAC
NR_148397.1:n.1372+300_1372+302delinsAAC
NR_148398.1:n.1327+300_1327+302delinsAAC
NR_148399.1:n.1714+300_1714+302delinsAAC
NR_148400.1:n.1313+300_1313+302delinsAAC
XM_005272162.3:c.141+300_141+302delinsAAC XP_005272219.1:n.141+300_141+302delinsAAC
XM_006716932.2:c.987+300_987+302delinsAAC XP_006716995.1:n.987+300_987+302delinsAAC
XM_011518140.2:c.1191+300_1191+302delinsAAC XP_011516442.1:n.1191+300_1191+302delinsAAC
XM_011518141.2:c.1125+300_1125+302delinsAAC XP_011516443.1:n.1125+300_1125+302delinsAAC
XM_011518142.2:c.1029+300_1029+302delinsAAC XP_011516444.1:n.1029+300_1029+302delinsAAC
XM_011518143.2:c.1023+300_1023+302delinsAAC XP_011516445.1:n.1023+300_1023+302delinsAAC
XM_011518145.2:c.882+300_882+302delinsAAC XP_011516447.1:n.882+300_882+302delinsAAC
XM_017014205.2:c.141+300_141+302delinsAAC XP_016869694.1:n.141+300_141+302delinsAAC
XM_024447380.1:c.141+300_141+302delinsAAC XP_024303148.1:n.141+300_141+302delinsAAC
XM_024447381.1:c.447+300_447+302delinsAAC XP_024303149.1:n.447+300_447+302delinsAAC
XM_024447382.1:c.141+300_141+302delinsAAC XP_024303150.1:n.141+300_141+302delinsAAC
XR_001746160.2:n.1442+300_1442+302delinsAAC
XR_001746162.2:n.1508+300_1508+302delinsAAC
XR_001746164.1:n.1225+300_1225+302delinsAAC
XR_001746166.2:n.1659+300_1659+302delinsAAC
NM_001077365.2:c.1272+300_1272+302delinsAAC MANE Select NP_001070833.1:n.1272+300_1272+302delinsAAC
NM_001077366.2:c.1110+300_1110+302delinsAAC NP_001070834.1:n.1110+300_1110+302delinsAAC
NM_001136113.2:c.1272+300_1272+302delinsAAC NP_001129585.1:n.1272+300_1272+302delinsAAC
NM_001136114.2:c.921+300_921+302delinsAAC NP_001129586.1:n.921+300_921+302delinsAAC
NM_001353193.2:c.1338+300_1338+302delinsAAC NP_001340122.2:n.1338+300_1338+302delinsAAC
NM_001353194.2:c.1110+300_1110+302delinsAAC NP_001340123.1:n.1110+300_1110+302delinsAAC
NM_001353195.2:c.921+300_921+302delinsAAC NP_001340124.1:n.921+300_921+302delinsAAC
NM_001353196.2:c.1182+300_1182+302delinsAAC NP_001340125.1:n.1182+300_1182+302delinsAAC
NM_001353197.2:c.1176+300_1176+302delinsAAC NP_001340126.2:n.1176+300_1176+302delinsAAC
NM_001353198.2:c.1176+300_1176+302delinsAAC NP_001340127.2:n.1176+300_1176+302delinsAAC
NM_001353199.2:c.987+300_987+302delinsAAC NP_001340128.2:n.987+300_987+302delinsAAC
NM_001353200.2:c.816+300_816+302delinsAAC NP_001340129.1:n.816+300_816+302delinsAAC
NM_001374689.1:c.1260+300_1260+302delinsAAC NP_001361618.1:n.1260+300_1260+302delinsAAC
NM_001374690.1:c.1272+300_1272+302delinsAAC NP_001361619.1:n.1272+300_1272+302delinsAAC
NM_001374691.1:c.921+300_921+302delinsAAC NP_001361620.1:n.921+300_921+302delinsAAC
NM_001374692.1:c.921+300_921+302delinsAAC NP_001361621.1:n.921+300_921+302delinsAAC
NM_001374693.1:c.921+300_921+302delinsAAC NP_001361622.1:n.921+300_921+302delinsAAC
NM_001374695.1:c.882+300_882+302delinsAAC NP_001361624.1:n.882+300_882+302delinsAAC
NM_007171.4:c.1338+300_1338+302delinsAAC NP_009102.4:n.1338+300_1338+302delinsAAC
NR_148391.2:n.1306+300_1306+302delinsAAC
NR_148392.2:n.1524+300_1524+302delinsAAC
NR_148393.2:n.1306+300_1306+302delinsAAC
NR_148394.2:n.1199+300_1199+302delinsAAC
NR_148395.2:n.1458+300_1458+302delinsAAC
NR_148396.2:n.1092+300_1092+302delinsAAC
NR_148397.2:n.1356+300_1356+302delinsAAC
NR_148398.2:n.1311+300_1311+302delinsAAC
NR_148399.2:n.1698+300_1698+302delinsAAC
NR_148400.2:n.1297+300_1297+302delinsAAC