Canonical Allele Identifier: CA2786114653
Gene: POMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131518565_131518566insGAA , CM000671.2:g.131518565_131518566insGAA GRCh38
NC_000009.11:g.134393952_134393953insGAA , CM000671.1:g.134393952_134393953insGAA GRCh37
NC_000009.10:g.133383773_133383774insGAA NCBI36
NG_008896.1:g.20664_20665insGAA
NG_008896.2:g.20664_20665insGAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1203+28_1203+29insGAA ENSP00000343034.7:n.1203+28_1203+29insGAA
ENST00000404875.7:n.1905+28_1905+29insGAA
ENST00000423007.6:c.1422+28_1422+29insGAA ENSP00000404119.2:n.1422+28_1422+29insGAA
ENST00000677295.2:c.*1709+28_*1709+29insGAA ENSP00000504346.2:n.*1709+28_*1709+29insGAA
ENST00000678264.2:c.*1548+28_*1548+29insGAA ENSP00000503157.2:n.*1548+28_*1548+29insGAA
ENST00000682070.1:n.1830+28_1830+29insGAA
ENST00000682539.1:c.303+28_303+29insGAA
ENST00000682813.1:n.1630+28_1630+29insGAA
ENST00000683110.1:n.93+28_93+29insGAA
ENST00000683392.1:n.4112+28_4112+29insGAA
ENST00000683712.1:n.1770+28_1770+29insGAA
ENST00000683900.1:n.3265+28_3265+29insGAA
ENST00000684062.1:n.2031+28_2031+29insGAA
ENST00000684579.1:n.3211+28_3211+29insGAA
ENST00000684679.1:n.592+28_592+29insGAA
ENST00000341012.12:c.1203+28_1203+29insGAA ENSP00000343034.7:n.1203+28_1203+29insGAA
ENST00000372220.5:c.234+28_234+29insGAA ENSP00000361294.5:n.234+28_234+29insGAA
ENST00000372228.9:c.1431+28_1431+29insGAA ENSP00000361302.3:n.1431+28_1431+29insGAA
ENST00000402686.8:c.1365+28_1365+29insGAA MANE Select ENSP00000385797.4:n.1365+28_1365+29insGAA
ENST00000676640.1:c.1365+28_1365+29insGAA ENSP00000503281.1:n.1365+28_1365+29insGAA
ENST00000676803.1:c.540+28_540+29insGAA ENSP00000503093.1:n.540+28_540+29insGAA
ENST00000676835.1:c.*580+28_*580+29insGAA ENSP00000502911.1:n.*580+28_*580+29insGAA
ENST00000677029.1:c.909+28_909+29insGAA ENSP00000502936.1:n.909+28_909+29insGAA
ENST00000677099.1:c.*1075+28_*1075+29insGAA ENSP00000504553.1:n.*1075+28_*1075+29insGAA
ENST00000677216.1:c.1014+28_1014+29insGAA ENSP00000503772.1:n.1014+28_1014+29insGAA
ENST00000677221.1:n.390+28_390+29insGAA
ENST00000677295.1:c.*742+28_*742+29insGAA ENSP00000504346.1:n.*742+28_*742+29insGAA
ENST00000677444.1:c.1171+28_1171+29insGAA
ENST00000677586.1:n.846+28_846+29insGAA
ENST00000677626.1:c.1014+28_1014+29insGAA ENSP00000503552.1:n.1014+28_1014+29insGAA
ENST00000677677.1:n.1325+28_1325+29insGAA
ENST00000677853.1:c.*373+28_*373+29insGAA ENSP00000503488.1:n.*373+28_*373+29insGAA
ENST00000677983.1:n.454+28_454+29insGAA
ENST00000678202.1:n.385+28_385+29insGAA
ENST00000678264.1:c.*742+28_*742+29insGAA ENSP00000503157.1:n.*742+28_*742+29insGAA
ENST00000678303.1:c.1275+28_1275+29insGAA ENSP00000503696.1:n.1275+28_1275+29insGAA
ENST00000678366.1:c.*1614+28_*1614+29insGAA ENSP00000504353.1:n.*1614+28_*1614+29insGAA
ENST00000678546.1:c.*1310+28_*1310+29insGAA ENSP00000503062.1:n.*1310+28_*1310+29insGAA
ENST00000678548.1:c.*1437+28_*1437+29insGAA ENSP00000503934.1:n.*1437+28_*1437+29insGAA
ENST00000678626.1:n.1062+28_1062+29insGAA
ENST00000678733.1:c.446+28_446+29insGAA
ENST00000678739.1:c.*1691+28_*1691+29insGAA ENSP00000503806.1:n.*1691+28_*1691+29insGAA
ENST00000678795.1:n.452+28_452+29insGAA
ENST00000678833.1:c.*812+28_*812+29insGAA ENSP00000503893.1:n.*812+28_*812+29insGAA
ENST00000678942.1:c.545+28_545+29insGAA ENSP00000504690.1:n.545+28_545+29insGAA
ENST00000679023.1:c.1203+28_1203+29insGAA ENSP00000503718.1:n.1203+28_1203+29insGAA
ENST00000679076.1:c.984+28_984+29insGAA
ENST00000679111.1:c.1365+28_1365+29insGAA ENSP00000504257.1:n.1365+28_1365+29insGAA
ENST00000679189.1:c.1014+28_1014+29insGAA ENSP00000503356.1:n.1014+28_1014+29insGAA
ENST00000341012.11:c.1203+28_1203+29insGAA ENSP00000343034.7:n.1203+28_1203+29insGAA
ENST00000372220.4:c.228+28_228+29insGAA ENSP00000361294.4:n.228+28_228+29insGAA
ENST00000372228.7:c.1431+28_1431+29insGAA ENSP00000361302.3:n.1431+28_1431+29insGAA
ENST00000402686.7:c.1365+28_1365+29insGAA ENSP00000385797.3:n.1365+28_1365+29insGAA
ENST00000404875.6:c.1014+28_1014+29insGAA ENSP00000384531.2:n.1014+28_1014+29insGAA
ENST00000423007.5:c.1365+28_1365+29insGAA ENSP00000404119.1:n.1365+28_1365+29insGAA
ENST00000485278.5:n.1920+28_1920+29insGAA
NM_001077365.1:c.1365+28_1365+29insGAA NP_001070833.1:n.1365+28_1365+29insGAA
NM_001077366.1:c.1203+28_1203+29insGAA NP_001070834.1:n.1203+28_1203+29insGAA
NM_001136113.1:c.1365+28_1365+29insGAA NP_001129585.1:n.1365+28_1365+29insGAA
NM_001136114.1:c.1014+28_1014+29insGAA NP_001129586.1:n.1014+28_1014+29insGAA
NM_007171.3:c.1431+28_1431+29insGAA NP_009102.3:n.1431+28_1431+29insGAA
XM_005272156.1:c.1431+28_1431+29insGAA XP_005272213.1:n.1431+28_1431+29insGAA
XM_005272158.1:c.1269+28_1269+29insGAA XP_005272215.1:n.1269+28_1269+29insGAA
XM_005272159.1:c.1080+28_1080+29insGAA XP_005272216.1:n.1080+28_1080+29insGAA
XM_005272162.1:c.234+28_234+29insGAA XP_005272219.1:n.234+28_234+29insGAA
XM_006716932.1:c.1080+28_1080+29insGAA XP_006716995.1:n.1080+28_1080+29insGAA
XM_011518140.1:c.1284+28_1284+29insGAA XP_011516442.1:n.1284+28_1284+29insGAA
XM_011518141.1:c.1218+28_1218+29insGAA XP_011516443.1:n.1218+28_1218+29insGAA
XM_011518142.1:c.1122+28_1122+29insGAA XP_011516444.1:n.1122+28_1122+29insGAA
XM_011518143.1:c.1116+28_1116+29insGAA XP_011516445.1:n.1116+28_1116+29insGAA
XM_011518144.1:c.1431+28_1431+29insGAA XP_011516446.1:n.1431+28_1431+29insGAA
XM_011518145.1:c.975+28_975+29insGAA XP_011516447.1:n.975+28_975+29insGAA
XM_011518146.1:c.1116+28_1116+29insGAA XP_011516448.1:n.1116+28_1116+29insGAA
XM_011518147.1:c.303+28_303+29insGAA XP_011516449.1:n.303+28_303+29insGAA
XR_929703.1:n.1607+28_1607+29insGAA
NM_001353193.1:c.1431+28_1431+29insGAA NP_001340122.1:n.1431+28_1431+29insGAA
NM_001353194.1:c.1203+28_1203+29insGAA NP_001340123.1:n.1203+28_1203+29insGAA
NM_001353195.1:c.1014+28_1014+29insGAA NP_001340124.1:n.1014+28_1014+29insGAA
NM_001353196.1:c.1275+28_1275+29insGAA NP_001340125.1:n.1275+28_1275+29insGAA
NM_001353197.1:c.1269+28_1269+29insGAA NP_001340126.1:n.1269+28_1269+29insGAA
NM_001353198.1:c.1269+28_1269+29insGAA NP_001340127.1:n.1269+28_1269+29insGAA
NM_001353199.1:c.1080+28_1080+29insGAA NP_001340128.1:n.1080+28_1080+29insGAA
NM_001353200.1:c.909+28_909+29insGAA NP_001340129.1:n.909+28_909+29insGAA
NR_148391.1:n.1415+28_1415+29insGAA
NR_148392.1:n.1633+28_1633+29insGAA
NR_148393.1:n.1415+28_1415+29insGAA
NR_148394.1:n.1308+28_1308+29insGAA
NR_148395.1:n.1567+28_1567+29insGAA
NR_148396.1:n.1201+28_1201+29insGAA
NR_148397.1:n.1465+28_1465+29insGAA
NR_148398.1:n.1420+28_1420+29insGAA
NR_148399.1:n.1807+28_1807+29insGAA
NR_148400.1:n.1406+28_1406+29insGAA
XM_005272162.3:c.234+28_234+29insGAA XP_005272219.1:n.234+28_234+29insGAA
XM_006716932.2:c.1080+28_1080+29insGAA XP_006716995.1:n.1080+28_1080+29insGAA
XM_011518140.2:c.1284+28_1284+29insGAA XP_011516442.1:n.1284+28_1284+29insGAA
XM_011518141.2:c.1218+28_1218+29insGAA XP_011516443.1:n.1218+28_1218+29insGAA
XM_011518142.2:c.1122+28_1122+29insGAA XP_011516444.1:n.1122+28_1122+29insGAA
XM_011518143.2:c.1116+28_1116+29insGAA XP_011516445.1:n.1116+28_1116+29insGAA
XM_011518145.2:c.975+28_975+29insGAA XP_011516447.1:n.975+28_975+29insGAA
XM_017014205.2:c.234+28_234+29insGAA XP_016869694.1:n.234+28_234+29insGAA
XM_024447380.1:c.234+28_234+29insGAA XP_024303148.1:n.234+28_234+29insGAA
XM_024447381.1:c.540+28_540+29insGAA XP_024303149.1:n.540+28_540+29insGAA
XM_024447382.1:c.234+28_234+29insGAA XP_024303150.1:n.234+28_234+29insGAA
XR_001746160.2:n.1535+28_1535+29insGAA
XR_001746162.2:n.1601+28_1601+29insGAA
XR_001746164.1:n.1318+28_1318+29insGAA
XR_001746166.2:n.1752+28_1752+29insGAA
NM_001077365.2:c.1365+28_1365+29insGAA MANE Select NP_001070833.1:n.1365+28_1365+29insGAA
NM_001077366.2:c.1203+28_1203+29insGAA NP_001070834.1:n.1203+28_1203+29insGAA
NM_001136113.2:c.1365+28_1365+29insGAA NP_001129585.1:n.1365+28_1365+29insGAA
NM_001136114.2:c.1014+28_1014+29insGAA NP_001129586.1:n.1014+28_1014+29insGAA
NM_001353193.2:c.1431+28_1431+29insGAA NP_001340122.2:n.1431+28_1431+29insGAA
NM_001353194.2:c.1203+28_1203+29insGAA NP_001340123.1:n.1203+28_1203+29insGAA
NM_001353195.2:c.1014+28_1014+29insGAA NP_001340124.1:n.1014+28_1014+29insGAA
NM_001353196.2:c.1275+28_1275+29insGAA NP_001340125.1:n.1275+28_1275+29insGAA
NM_001353197.2:c.1269+28_1269+29insGAA NP_001340126.2:n.1269+28_1269+29insGAA
NM_001353198.2:c.1269+28_1269+29insGAA NP_001340127.2:n.1269+28_1269+29insGAA
NM_001353199.2:c.1080+28_1080+29insGAA NP_001340128.2:n.1080+28_1080+29insGAA
NM_001353200.2:c.909+28_909+29insGAA NP_001340129.1:n.909+28_909+29insGAA
NM_001374689.1:c.1353+28_1353+29insGAA NP_001361618.1:n.1353+28_1353+29insGAA
NM_001374690.1:c.1365+28_1365+29insGAA NP_001361619.1:n.1365+28_1365+29insGAA
NM_001374691.1:c.1014+28_1014+29insGAA NP_001361620.1:n.1014+28_1014+29insGAA
NM_001374692.1:c.1014+28_1014+29insGAA NP_001361621.1:n.1014+28_1014+29insGAA
NM_001374693.1:c.1014+28_1014+29insGAA NP_001361622.1:n.1014+28_1014+29insGAA
NM_001374695.1:c.975+28_975+29insGAA NP_001361624.1:n.975+28_975+29insGAA
NM_007171.4:c.1431+28_1431+29insGAA NP_009102.4:n.1431+28_1431+29insGAA
NR_148391.2:n.1399+28_1399+29insGAA
NR_148392.2:n.1617+28_1617+29insGAA
NR_148393.2:n.1399+28_1399+29insGAA
NR_148394.2:n.1292+28_1292+29insGAA
NR_148395.2:n.1551+28_1551+29insGAA
NR_148396.2:n.1185+28_1185+29insGAA
NR_148397.2:n.1449+28_1449+29insGAA
NR_148398.2:n.1404+28_1404+29insGAA
NR_148399.2:n.1791+28_1791+29insGAA
NR_148400.2:n.1390+28_1390+29insGAA