Canonical Allele Identifier: CA1881751610
Gene: POMT1 HGNC NCBI

Linked Data

dbSNP Id: rs1949181954

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131518363_131518365del , CM000671.2:g.131518363_131518365del GRCh38
NC_000009.11:g.134393750_134393752del , CM000671.1:g.134393750_134393752del GRCh37
NC_000009.10:g.133383571_133383573del NCBI36
NG_008896.1:g.20462_20464del
NG_008896.2:g.20462_20464del

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1111-82_1111-80del ENSP00000343034.7:n.1111-82_1111-80del
ENST00000404875.7:n.1813-82_1813-80del
ENST00000423007.6:c.1330-82_1330-80del ENSP00000404119.2:n.1330-82_1330-80del
ENST00000677295.2:c.*1617-82_*1617-80del ENSP00000504346.2:n.*1617-82_*1617-80del
ENST00000678264.2:c.*1456-82_*1456-80del ENSP00000503157.2:n.*1456-82_*1456-80del
ENST00000682070.1:n.1738-82_1738-80del
ENST00000682535.1:n.30+10_30+12del
ENST00000682539.1:c.211-82_211-80del
ENST00000682813.1:n.1538-82_1538-80del
ENST00000683392.1:n.4020-82_4020-80del
ENST00000683712.1:n.1678-82_1678-80del
ENST00000683900.1:n.3173-82_3173-80del
ENST00000684062.1:n.1939-82_1939-80del
ENST00000684579.1:n.3119-82_3119-80del
ENST00000684679.1:n.500-82_500-80del
ENST00000341012.12:c.1111-82_1111-80del ENSP00000343034.7:n.1111-82_1111-80del
ENST00000372220.5:c.142-82_142-80del ENSP00000361294.5:n.142-82_142-80del
ENST00000372228.9:c.1339-82_1339-80del ENSP00000361302.3:n.1339-82_1339-80del
ENST00000402686.8:c.1273-82_1273-80del MANE Select ENSP00000385797.4:n.1273-82_1273-80del
ENST00000676640.1:c.1273-82_1273-80del ENSP00000503281.1:n.1273-82_1273-80del
ENST00000676803.1:c.448-82_448-80del ENSP00000503093.1:n.448-82_448-80del
ENST00000676835.1:c.*488-82_*488-80del ENSP00000502911.1:n.*488-82_*488-80del
ENST00000677029.1:c.817-82_817-80del ENSP00000502936.1:n.817-82_817-80del
ENST00000677099.1:c.*983-82_*983-80del ENSP00000504553.1:n.*983-82_*983-80del
ENST00000677216.1:c.922-82_922-80del ENSP00000503772.1:n.922-82_922-80del
ENST00000677221.1:n.297+10_297+12del
ENST00000677295.1:c.*650-82_*650-80del ENSP00000504346.1:n.*650-82_*650-80del
ENST00000677444.1:c.1079-82_1079-80del
ENST00000677586.1:n.754-82_754-80del
ENST00000677626.1:c.922-82_922-80del ENSP00000503552.1:n.922-82_922-80del
ENST00000677677.1:n.1233-82_1233-80del
ENST00000677853.1:c.*281-82_*281-80del ENSP00000503488.1:n.*281-82_*281-80del
ENST00000677944.1:c.535-82_535-80del
ENST00000677983.1:n.361+10_361+12del
ENST00000678202.1:n.292+72_292+74del
ENST00000678264.1:c.*650-82_*650-80del ENSP00000503157.1:n.*650-82_*650-80del
ENST00000678303.1:c.1183-82_1183-80del ENSP00000503696.1:n.1183-82_1183-80del
ENST00000678366.1:c.*1522-82_*1522-80del ENSP00000504353.1:n.*1522-82_*1522-80del
ENST00000678546.1:c.*1218-82_*1218-80del ENSP00000503062.1:n.*1218-82_*1218-80del
ENST00000678548.1:c.*1345-82_*1345-80del ENSP00000503934.1:n.*1345-82_*1345-80del
ENST00000678626.1:n.970-82_970-80del
ENST00000678733.1:c.354-82_354-80del
ENST00000678739.1:c.*1599-82_*1599-80del ENSP00000503806.1:n.*1599-82_*1599-80del
ENST00000678795.1:n.360-82_360-80del
ENST00000678833.1:c.*720-82_*720-80del ENSP00000503893.1:n.*720-82_*720-80del
ENST00000678942.1:c.453-82_453-80del ENSP00000504690.1:n.453-82_453-80del
ENST00000679023.1:c.1111-82_1111-80del ENSP00000503718.1:n.1111-82_1111-80del
ENST00000679076.1:c.892-82_892-80del
ENST00000679111.1:c.1273-82_1273-80del ENSP00000504257.1:n.1273-82_1273-80del
ENST00000679189.1:c.922-82_922-80del ENSP00000503356.1:n.922-82_922-80del
ENST00000341012.11:c.1111-82_1111-80del ENSP00000343034.7:n.1111-82_1111-80del
ENST00000372220.4:c.135+10_135+12del ENSP00000361294.4:n.135+10_135+12del
ENST00000372228.7:c.1339-82_1339-80del ENSP00000361302.3:n.1339-82_1339-80del
ENST00000402686.7:c.1273-82_1273-80del ENSP00000385797.3:n.1273-82_1273-80del
ENST00000404875.6:c.922-82_922-80del ENSP00000384531.2:n.922-82_922-80del
ENST00000423007.5:c.1273-82_1273-80del ENSP00000404119.1:n.1273-82_1273-80del
ENST00000485278.5:n.1828-82_1828-80del
NM_001077365.1:c.1273-82_1273-80del NP_001070833.1:n.1273-82_1273-80del
NM_001077366.1:c.1111-82_1111-80del NP_001070834.1:n.1111-82_1111-80del
NM_001136113.1:c.1273-82_1273-80del NP_001129585.1:n.1273-82_1273-80del
NM_001136114.1:c.922-82_922-80del NP_001129586.1:n.922-82_922-80del
NM_007171.3:c.1339-82_1339-80del NP_009102.3:n.1339-82_1339-80del
XM_005272156.1:c.1339-82_1339-80del XP_005272213.1:n.1339-82_1339-80del
XM_005272158.1:c.1177-82_1177-80del XP_005272215.1:n.1177-82_1177-80del
XM_005272159.1:c.988-82_988-80del XP_005272216.1:n.988-82_988-80del
XM_005272162.1:c.142-82_142-80del XP_005272219.1:n.142-82_142-80del
XM_006716932.1:c.988-82_988-80del XP_006716995.1:n.988-82_988-80del
XM_011518140.1:c.1192-82_1192-80del XP_011516442.1:n.1192-82_1192-80del
XM_011518141.1:c.1126-82_1126-80del XP_011516443.1:n.1126-82_1126-80del
XM_011518142.1:c.1030-82_1030-80del XP_011516444.1:n.1030-82_1030-80del
XM_011518143.1:c.1024-82_1024-80del XP_011516445.1:n.1024-82_1024-80del
XM_011518144.1:c.1339-82_1339-80del XP_011516446.1:n.1339-82_1339-80del
XM_011518145.1:c.883-82_883-80del XP_011516447.1:n.883-82_883-80del
XM_011518146.1:c.1024-82_1024-80del XP_011516448.1:n.1024-82_1024-80del
XM_011518147.1:c.210+10_210+12del XP_011516449.1:n.210+10_210+12del
XR_929703.1:n.1515-82_1515-80del
NM_001353193.1:c.1339-82_1339-80del NP_001340122.1:n.1339-82_1339-80del
NM_001353194.1:c.1111-82_1111-80del NP_001340123.1:n.1111-82_1111-80del
NM_001353195.1:c.922-82_922-80del NP_001340124.1:n.922-82_922-80del
NM_001353196.1:c.1183-82_1183-80del NP_001340125.1:n.1183-82_1183-80del
NM_001353197.1:c.1177-82_1177-80del NP_001340126.1:n.1177-82_1177-80del
NM_001353198.1:c.1177-82_1177-80del NP_001340127.1:n.1177-82_1177-80del
NM_001353199.1:c.988-82_988-80del NP_001340128.1:n.988-82_988-80del
NM_001353200.1:c.817-82_817-80del NP_001340129.1:n.817-82_817-80del
NR_148391.1:n.1323-82_1323-80del
NR_148392.1:n.1541-82_1541-80del
NR_148393.1:n.1323-82_1323-80del
NR_148394.1:n.1216-82_1216-80del
NR_148395.1:n.1475-82_1475-80del
NR_148396.1:n.1109-82_1109-80del
NR_148397.1:n.1373-82_1373-80del
NR_148398.1:n.1328-82_1328-80del
NR_148399.1:n.1715-82_1715-80del
NR_148400.1:n.1314-82_1314-80del
XM_005272162.3:c.142-82_142-80del XP_005272219.1:n.142-82_142-80del
XM_006716932.2:c.988-82_988-80del XP_006716995.1:n.988-82_988-80del
XM_011518140.2:c.1192-82_1192-80del XP_011516442.1:n.1192-82_1192-80del
XM_011518141.2:c.1126-82_1126-80del XP_011516443.1:n.1126-82_1126-80del
XM_011518142.2:c.1030-82_1030-80del XP_011516444.1:n.1030-82_1030-80del
XM_011518143.2:c.1024-82_1024-80del XP_011516445.1:n.1024-82_1024-80del
XM_011518145.2:c.883-82_883-80del XP_011516447.1:n.883-82_883-80del
XM_017014205.2:c.142-82_142-80del XP_016869694.1:n.142-82_142-80del
XM_024447380.1:c.142-82_142-80del XP_024303148.1:n.142-82_142-80del
XM_024447381.1:c.448-82_448-80del XP_024303149.1:n.448-82_448-80del
XM_024447382.1:c.142-82_142-80del XP_024303150.1:n.142-82_142-80del
XR_001746160.2:n.1443-82_1443-80del
XR_001746162.2:n.1509-82_1509-80del
XR_001746164.1:n.1226-82_1226-80del
XR_001746166.2:n.1660-82_1660-80del
XR_930402.2:n.74_76del
NM_001077365.2:c.1273-82_1273-80del MANE Select NP_001070833.1:n.1273-82_1273-80del
NM_001077366.2:c.1111-82_1111-80del NP_001070834.1:n.1111-82_1111-80del
NM_001136113.2:c.1273-82_1273-80del NP_001129585.1:n.1273-82_1273-80del
NM_001136114.2:c.922-82_922-80del NP_001129586.1:n.922-82_922-80del
NM_001353193.2:c.1339-82_1339-80del NP_001340122.2:n.1339-82_1339-80del
NM_001353194.2:c.1111-82_1111-80del NP_001340123.1:n.1111-82_1111-80del
NM_001353195.2:c.922-82_922-80del NP_001340124.1:n.922-82_922-80del
NM_001353196.2:c.1183-82_1183-80del NP_001340125.1:n.1183-82_1183-80del
NM_001353197.2:c.1177-82_1177-80del NP_001340126.2:n.1177-82_1177-80del
NM_001353198.2:c.1177-82_1177-80del NP_001340127.2:n.1177-82_1177-80del
NM_001353199.2:c.988-82_988-80del NP_001340128.2:n.988-82_988-80del
NM_001353200.2:c.817-82_817-80del NP_001340129.1:n.817-82_817-80del
NM_001374689.1:c.1261-82_1261-80del NP_001361618.1:n.1261-82_1261-80del
NM_001374690.1:c.1273-82_1273-80del NP_001361619.1:n.1273-82_1273-80del
NM_001374691.1:c.922-82_922-80del NP_001361620.1:n.922-82_922-80del
NM_001374692.1:c.922-82_922-80del NP_001361621.1:n.922-82_922-80del
NM_001374693.1:c.922-82_922-80del NP_001361622.1:n.922-82_922-80del
NM_001374695.1:c.883-82_883-80del NP_001361624.1:n.883-82_883-80del
NM_007171.4:c.1339-82_1339-80del NP_009102.4:n.1339-82_1339-80del
NR_148391.2:n.1307-82_1307-80del
NR_148392.2:n.1525-82_1525-80del
NR_148393.2:n.1307-82_1307-80del
NR_148394.2:n.1200-82_1200-80del
NR_148395.2:n.1459-82_1459-80del
NR_148396.2:n.1093-82_1093-80del
NR_148397.2:n.1357-82_1357-80del
NR_148398.2:n.1312-82_1312-80del
NR_148399.2:n.1699-82_1699-80del
NR_148400.2:n.1298-82_1298-80del