Canonical Allele Identifier: CA1881751641
Gene: POMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131518384_131518385delinsAT , CM000671.2:g.131518384_131518385delinsAT GRCh38
NC_000009.11:g.134393771_134393772delinsAT , CM000671.1:g.134393771_134393772delinsAT GRCh37
NC_000009.10:g.133383592_133383593delinsAT NCBI36
NG_008896.1:g.20483_20484delinsAT
NG_008896.2:g.20483_20484delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1111-61_1111-60delinsAT ENSP00000343034.7:n.1111-61_1111-60delinsAT
ENST00000404875.7:n.1813-61_1813-60delinsAT
ENST00000423007.6:c.1330-61_1330-60delinsAT ENSP00000404119.2:n.1330-61_1330-60delinsAT
ENST00000677295.2:c.*1617-61_*1617-60delinsAT ENSP00000504346.2:n.*1617-61_*1617-60delinsAT
ENST00000678264.2:c.*1456-61_*1456-60delinsAT ENSP00000503157.2:n.*1456-61_*1456-60delinsAT
ENST00000682070.1:n.1738-61_1738-60delinsAT
ENST00000682535.1:n.30+31_30+32delinsAT
ENST00000682539.1:c.211-61_211-60delinsAT
ENST00000682813.1:n.1538-61_1538-60delinsAT
ENST00000683392.1:n.4020-61_4020-60delinsAT
ENST00000683712.1:n.1678-61_1678-60delinsAT
ENST00000683900.1:n.3173-61_3173-60delinsAT
ENST00000684062.1:n.1939-61_1939-60delinsAT
ENST00000684579.1:n.3119-61_3119-60delinsAT
ENST00000684679.1:n.500-61_500-60delinsAT
ENST00000341012.12:c.1111-61_1111-60delinsAT ENSP00000343034.7:n.1111-61_1111-60delinsAT
ENST00000372220.5:c.142-61_142-60delinsAT ENSP00000361294.5:n.142-61_142-60delinsAT
ENST00000372228.9:c.1339-61_1339-60delinsAT ENSP00000361302.3:n.1339-61_1339-60delinsAT
ENST00000402686.8:c.1273-61_1273-60delinsAT MANE Select ENSP00000385797.4:n.1273-61_1273-60delinsAT
ENST00000676640.1:c.1273-61_1273-60delinsAT ENSP00000503281.1:n.1273-61_1273-60delinsAT
ENST00000676803.1:c.448-61_448-60delinsAT ENSP00000503093.1:n.448-61_448-60delinsAT
ENST00000676835.1:c.*488-61_*488-60delinsAT ENSP00000502911.1:n.*488-61_*488-60delinsAT
ENST00000677029.1:c.817-61_817-60delinsAT ENSP00000502936.1:n.817-61_817-60delinsAT
ENST00000677099.1:c.*983-61_*983-60delinsAT ENSP00000504553.1:n.*983-61_*983-60delinsAT
ENST00000677216.1:c.922-61_922-60delinsAT ENSP00000503772.1:n.922-61_922-60delinsAT
ENST00000677221.1:n.297+31_297+32delinsAT
ENST00000677295.1:c.*650-61_*650-60delinsAT ENSP00000504346.1:n.*650-61_*650-60delinsAT
ENST00000677444.1:c.1079-61_1079-60delinsAT
ENST00000677586.1:n.754-61_754-60delinsAT
ENST00000677626.1:c.922-61_922-60delinsAT ENSP00000503552.1:n.922-61_922-60delinsAT
ENST00000677677.1:n.1233-61_1233-60delinsAT
ENST00000677853.1:c.*281-61_*281-60delinsAT ENSP00000503488.1:n.*281-61_*281-60delinsAT
ENST00000677944.1:c.535-61_535-60delinsAT
ENST00000677983.1:n.361+31_361+32delinsAT
ENST00000678202.1:n.293-61_293-60delinsAT
ENST00000678264.1:c.*650-61_*650-60delinsAT ENSP00000503157.1:n.*650-61_*650-60delinsAT
ENST00000678303.1:c.1183-61_1183-60delinsAT ENSP00000503696.1:n.1183-61_1183-60delinsAT
ENST00000678366.1:c.*1522-61_*1522-60delinsAT ENSP00000504353.1:n.*1522-61_*1522-60delinsAT
ENST00000678546.1:c.*1218-61_*1218-60delinsAT ENSP00000503062.1:n.*1218-61_*1218-60delinsAT
ENST00000678548.1:c.*1345-61_*1345-60delinsAT ENSP00000503934.1:n.*1345-61_*1345-60delinsAT
ENST00000678626.1:n.970-61_970-60delinsAT
ENST00000678733.1:c.354-61_354-60delinsAT
ENST00000678739.1:c.*1599-61_*1599-60delinsAT ENSP00000503806.1:n.*1599-61_*1599-60delinsAT
ENST00000678795.1:n.360-61_360-60delinsAT
ENST00000678833.1:c.*720-61_*720-60delinsAT ENSP00000503893.1:n.*720-61_*720-60delinsAT
ENST00000678942.1:c.453-61_453-60delinsAT ENSP00000504690.1:n.453-61_453-60delinsAT
ENST00000679023.1:c.1111-61_1111-60delinsAT ENSP00000503718.1:n.1111-61_1111-60delinsAT
ENST00000679076.1:c.892-61_892-60delinsAT
ENST00000679111.1:c.1273-61_1273-60delinsAT ENSP00000504257.1:n.1273-61_1273-60delinsAT
ENST00000679189.1:c.922-61_922-60delinsAT ENSP00000503356.1:n.922-61_922-60delinsAT
ENST00000341012.11:c.1111-61_1111-60delinsAT ENSP00000343034.7:n.1111-61_1111-60delinsAT
ENST00000372220.4:c.135+31_135+32delinsAT ENSP00000361294.4:n.135+31_135+32delinsAT
ENST00000372228.7:c.1339-61_1339-60delinsAT ENSP00000361302.3:n.1339-61_1339-60delinsAT
ENST00000402686.7:c.1273-61_1273-60delinsAT ENSP00000385797.3:n.1273-61_1273-60delinsAT
ENST00000404875.6:c.922-61_922-60delinsAT ENSP00000384531.2:n.922-61_922-60delinsAT
ENST00000423007.5:c.1273-61_1273-60delinsAT ENSP00000404119.1:n.1273-61_1273-60delinsAT
ENST00000485278.5:n.1828-61_1828-60delinsAT
NM_001077365.1:c.1273-61_1273-60delinsAT NP_001070833.1:n.1273-61_1273-60delinsAT
NM_001077366.1:c.1111-61_1111-60delinsAT NP_001070834.1:n.1111-61_1111-60delinsAT
NM_001136113.1:c.1273-61_1273-60delinsAT NP_001129585.1:n.1273-61_1273-60delinsAT
NM_001136114.1:c.922-61_922-60delinsAT NP_001129586.1:n.922-61_922-60delinsAT
NM_007171.3:c.1339-61_1339-60delinsAT NP_009102.3:n.1339-61_1339-60delinsAT
XM_005272156.1:c.1339-61_1339-60delinsAT XP_005272213.1:n.1339-61_1339-60delinsAT
XM_005272158.1:c.1177-61_1177-60delinsAT XP_005272215.1:n.1177-61_1177-60delinsAT
XM_005272159.1:c.988-61_988-60delinsAT XP_005272216.1:n.988-61_988-60delinsAT
XM_005272162.1:c.142-61_142-60delinsAT XP_005272219.1:n.142-61_142-60delinsAT
XM_006716932.1:c.988-61_988-60delinsAT XP_006716995.1:n.988-61_988-60delinsAT
XM_011518140.1:c.1192-61_1192-60delinsAT XP_011516442.1:n.1192-61_1192-60delinsAT
XM_011518141.1:c.1126-61_1126-60delinsAT XP_011516443.1:n.1126-61_1126-60delinsAT
XM_011518142.1:c.1030-61_1030-60delinsAT XP_011516444.1:n.1030-61_1030-60delinsAT
XM_011518143.1:c.1024-61_1024-60delinsAT XP_011516445.1:n.1024-61_1024-60delinsAT
XM_011518144.1:c.1339-61_1339-60delinsAT XP_011516446.1:n.1339-61_1339-60delinsAT
XM_011518145.1:c.883-61_883-60delinsAT XP_011516447.1:n.883-61_883-60delinsAT
XM_011518146.1:c.1024-61_1024-60delinsAT XP_011516448.1:n.1024-61_1024-60delinsAT
XM_011518147.1:c.210+31_210+32delinsAT XP_011516449.1:n.210+31_210+32delinsAT
XR_929703.1:n.1515-61_1515-60delinsAT
NM_001353193.1:c.1339-61_1339-60delinsAT NP_001340122.1:n.1339-61_1339-60delinsAT
NM_001353194.1:c.1111-61_1111-60delinsAT NP_001340123.1:n.1111-61_1111-60delinsAT
NM_001353195.1:c.922-61_922-60delinsAT NP_001340124.1:n.922-61_922-60delinsAT
NM_001353196.1:c.1183-61_1183-60delinsAT NP_001340125.1:n.1183-61_1183-60delinsAT
NM_001353197.1:c.1177-61_1177-60delinsAT NP_001340126.1:n.1177-61_1177-60delinsAT
NM_001353198.1:c.1177-61_1177-60delinsAT NP_001340127.1:n.1177-61_1177-60delinsAT
NM_001353199.1:c.988-61_988-60delinsAT NP_001340128.1:n.988-61_988-60delinsAT
NM_001353200.1:c.817-61_817-60delinsAT NP_001340129.1:n.817-61_817-60delinsAT
NR_148391.1:n.1323-61_1323-60delinsAT
NR_148392.1:n.1541-61_1541-60delinsAT
NR_148393.1:n.1323-61_1323-60delinsAT
NR_148394.1:n.1216-61_1216-60delinsAT
NR_148395.1:n.1475-61_1475-60delinsAT
NR_148396.1:n.1109-61_1109-60delinsAT
NR_148397.1:n.1373-61_1373-60delinsAT
NR_148398.1:n.1328-61_1328-60delinsAT
NR_148399.1:n.1715-61_1715-60delinsAT
NR_148400.1:n.1314-61_1314-60delinsAT
XM_005272162.3:c.142-61_142-60delinsAT XP_005272219.1:n.142-61_142-60delinsAT
XM_006716932.2:c.988-61_988-60delinsAT XP_006716995.1:n.988-61_988-60delinsAT
XM_011518140.2:c.1192-61_1192-60delinsAT XP_011516442.1:n.1192-61_1192-60delinsAT
XM_011518141.2:c.1126-61_1126-60delinsAT XP_011516443.1:n.1126-61_1126-60delinsAT
XM_011518142.2:c.1030-61_1030-60delinsAT XP_011516444.1:n.1030-61_1030-60delinsAT
XM_011518143.2:c.1024-61_1024-60delinsAT XP_011516445.1:n.1024-61_1024-60delinsAT
XM_011518145.2:c.883-61_883-60delinsAT XP_011516447.1:n.883-61_883-60delinsAT
XM_017014205.2:c.142-61_142-60delinsAT XP_016869694.1:n.142-61_142-60delinsAT
XM_024447380.1:c.142-61_142-60delinsAT XP_024303148.1:n.142-61_142-60delinsAT
XM_024447381.1:c.448-61_448-60delinsAT XP_024303149.1:n.448-61_448-60delinsAT
XM_024447382.1:c.142-61_142-60delinsAT XP_024303150.1:n.142-61_142-60delinsAT
XR_001746160.2:n.1443-61_1443-60delinsAT
XR_001746162.2:n.1509-61_1509-60delinsAT
XR_001746164.1:n.1226-61_1226-60delinsAT
XR_001746166.2:n.1660-61_1660-60delinsAT
XR_930402.2:n.54_55delinsAT
NM_001077365.2:c.1273-61_1273-60delinsAT MANE Select NP_001070833.1:n.1273-61_1273-60delinsAT
NM_001077366.2:c.1111-61_1111-60delinsAT NP_001070834.1:n.1111-61_1111-60delinsAT
NM_001136113.2:c.1273-61_1273-60delinsAT NP_001129585.1:n.1273-61_1273-60delinsAT
NM_001136114.2:c.922-61_922-60delinsAT NP_001129586.1:n.922-61_922-60delinsAT
NM_001353193.2:c.1339-61_1339-60delinsAT NP_001340122.2:n.1339-61_1339-60delinsAT
NM_001353194.2:c.1111-61_1111-60delinsAT NP_001340123.1:n.1111-61_1111-60delinsAT
NM_001353195.2:c.922-61_922-60delinsAT NP_001340124.1:n.922-61_922-60delinsAT
NM_001353196.2:c.1183-61_1183-60delinsAT NP_001340125.1:n.1183-61_1183-60delinsAT
NM_001353197.2:c.1177-61_1177-60delinsAT NP_001340126.2:n.1177-61_1177-60delinsAT
NM_001353198.2:c.1177-61_1177-60delinsAT NP_001340127.2:n.1177-61_1177-60delinsAT
NM_001353199.2:c.988-61_988-60delinsAT NP_001340128.2:n.988-61_988-60delinsAT
NM_001353200.2:c.817-61_817-60delinsAT NP_001340129.1:n.817-61_817-60delinsAT
NM_001374689.1:c.1261-61_1261-60delinsAT NP_001361618.1:n.1261-61_1261-60delinsAT
NM_001374690.1:c.1273-61_1273-60delinsAT NP_001361619.1:n.1273-61_1273-60delinsAT
NM_001374691.1:c.922-61_922-60delinsAT NP_001361620.1:n.922-61_922-60delinsAT
NM_001374692.1:c.922-61_922-60delinsAT NP_001361621.1:n.922-61_922-60delinsAT
NM_001374693.1:c.922-61_922-60delinsAT NP_001361622.1:n.922-61_922-60delinsAT
NM_001374695.1:c.883-61_883-60delinsAT NP_001361624.1:n.883-61_883-60delinsAT
NM_007171.4:c.1339-61_1339-60delinsAT NP_009102.4:n.1339-61_1339-60delinsAT
NR_148391.2:n.1307-61_1307-60delinsAT
NR_148392.2:n.1525-61_1525-60delinsAT
NR_148393.2:n.1307-61_1307-60delinsAT
NR_148394.2:n.1200-61_1200-60delinsAT
NR_148395.2:n.1459-61_1459-60delinsAT
NR_148396.2:n.1093-61_1093-60delinsAT
NR_148397.2:n.1357-61_1357-60delinsAT
NR_148398.2:n.1312-61_1312-60delinsAT
NR_148399.2:n.1699-61_1699-60delinsAT
NR_148400.2:n.1298-61_1298-60delinsAT