Canonical Allele Identifier: CA590946781

Gene: POMT1

Linked Data

• dbSNP Id: rs1472946513
• gnomAD v2: 9-134393920-T-TAA
• gnomAD v3: 9-131518533-T-TAA
• gnomAD v4: 9-131518533-T-TAA
• MyVariant Identifiers: chr9:g.134393920_134393921insAA (hg19) ; chr9:g.131518533_131518534insAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518535_131518536dup , CM000671.2:g.131518535_131518536dup	GRCh38
NC_000009.11:g.134393922_134393923dup , CM000671.1:g.134393922_134393923dup	GRCh37
NC_000009.10:g.133383743_133383744dup	NCBI36
NG_008896.1:g.20634_20635dup
NG_008896.2:g.20634_20635dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1201_1202dup	ENSP00000343034.7:p.Leu402SerfsTer2
ENST00000404875.7:n.1903_1904dup
ENST00000423007.6:c.1420_1421dup	ENSP00000404119.2:p.Leu475SerfsTer2
ENST00000677295.2:c.*1707_*1708dup	ENSP00000504346.2:n.*1707_*1708dup
ENST00000678264.2:c.*1546_*1547dup	ENSP00000503157.2:n.*1546_*1547dup
ENST00000682070.1:n.1828_1829dup
ENST00000682535.1:n.135_136dup
ENST00000682539.1:c.301_302dup
ENST00000682813.1:n.1628_1629dup
ENST00000683110.1:n.91_92dup
ENST00000683392.1:n.4110_4111dup
ENST00000683712.1:n.1768_1769dup
ENST00000683900.1:n.3263_3264dup
ENST00000684062.1:n.2029_2030dup
ENST00000684579.1:n.3209_3210dup
ENST00000684679.1:n.590_591dup
ENST00000341012.12:c.1201_1202dup	ENSP00000343034.7:p.Leu402SerfsTer2
ENST00000372220.5:c.232_233dup	ENSP00000361294.5:p.Leu79SerfsTer2
ENST00000372228.9:c.1429_1430dup	ENSP00000361302.3:p.Leu478SerfsTer2
ENST00000402686.8:c.1363_1364dup MANE Select	ENSP00000385797.4:p.Leu456SerfsTer2
ENST00000676640.1:c.1363_1364dup	ENSP00000503281.1:p.Leu456SerfsTer2
ENST00000676803.1:c.538_539dup	ENSP00000503093.1:p.Leu181SerfsTer2
ENST00000676835.1:c.*578_*579dup	ENSP00000502911.1:n.*578_*579dup
ENST00000677029.1:c.907_908dup	ENSP00000502936.1:p.Leu304SerfsTer2
ENST00000677099.1:c.*1073_*1074dup	ENSP00000504553.1:n.*1073_*1074dup
ENST00000677216.1:c.1012_1013dup	ENSP00000503772.1:p.Leu339SerfsTer2
ENST00000677221.1:n.388_389dup
ENST00000677295.1:c.*740_*741dup	ENSP00000504346.1:n.*740_*741dup
ENST00000677444.1:c.1169_1170dup
ENST00000677586.1:n.844_845dup
ENST00000677626.1:c.1012_1013dup	ENSP00000503552.1:p.Leu339SerfsTer2
ENST00000677677.1:n.1323_1324dup
ENST00000677853.1:c.*371_*372dup	ENSP00000503488.1:n.*371_*372dup
ENST00000677983.1:n.452_453dup
ENST00000678202.1:n.383_384dup
ENST00000678264.1:c.*740_*741dup	ENSP00000503157.1:n.*740_*741dup
ENST00000678303.1:c.1273_1274dup	ENSP00000503696.1:p.Leu426SerfsTer2
ENST00000678366.1:c.*1612_*1613dup	ENSP00000504353.1:n.*1612_*1613dup
ENST00000678546.1:c.*1308_*1309dup	ENSP00000503062.1:n.*1308_*1309dup
ENST00000678548.1:c.*1435_*1436dup	ENSP00000503934.1:n.*1435_*1436dup
ENST00000678626.1:n.1060_1061dup
ENST00000678733.1:c.444_445dup
ENST00000678739.1:c.*1689_*1690dup	ENSP00000503806.1:n.*1689_*1690dup
ENST00000678795.1:n.450_451dup
ENST00000678833.1:c.*810_*811dup	ENSP00000503893.1:n.*810_*811dup
ENST00000678942.1:c.543_544dup	ENSP00000504690.1:n.543_544dup
ENST00000679023.1:c.1201_1202dup	ENSP00000503718.1:p.Leu402SerfsTer2
ENST00000679076.1:c.982_983dup
ENST00000679111.1:c.1363_1364dup	ENSP00000504257.1:p.Asp456ArgfsTer15
ENST00000679189.1:c.1012_1013dup	ENSP00000503356.1:p.Leu339SerfsTer2
ENST00000341012.11:c.1201_1202dup	ENSP00000343034.7:p.Leu402SerfsTer2
ENST00000372220.4:c.226_227dup	ENSP00000361294.4:p.Leu77SerfsTer2
ENST00000372228.7:c.1429_1430dup	ENSP00000361302.3:p.Leu478SerfsTer2
ENST00000402686.7:c.1363_1364dup	ENSP00000385797.3:p.Leu456SerfsTer2
ENST00000404875.6:c.1012_1013dup	ENSP00000384531.2:p.Leu339SerfsTer2
ENST00000423007.5:c.1363_1364dup	ENSP00000404119.1:p.Leu456SerfsTer2
ENST00000485278.5:n.1918_1919dup
NM_001077365.1:c.1363_1364dup	NP_001070833.1:p.Leu456SerfsTer2
NM_001077366.1:c.1201_1202dup	NP_001070834.1:p.Leu402SerfsTer2
NM_001136113.1:c.1363_1364dup	NP_001129585.1:p.Leu456SerfsTer2
NM_001136114.1:c.1012_1013dup	NP_001129586.1:p.Leu339SerfsTer2
NM_007171.3:c.1429_1430dup	NP_009102.3:p.Leu478SerfsTer2
XM_005272156.1:c.1429_1430dup	XP_005272213.1:p.Leu478SerfsTer2
XM_005272158.1:c.1267_1268dup	XP_005272215.1:p.Leu424SerfsTer2
XM_005272159.1:c.1078_1079dup	XP_005272216.1:p.Leu361SerfsTer2
XM_005272162.1:c.232_233dup	XP_005272219.1:p.Leu79SerfsTer2
XM_006716932.1:c.1078_1079dup	XP_006716995.1:p.Leu361SerfsTer2
XM_011518140.1:c.1282_1283dup	XP_011516442.1:p.Leu429SerfsTer2
XM_011518141.1:c.1216_1217dup	XP_011516443.1:p.Leu407SerfsTer2
XM_011518142.1:c.1120_1121dup	XP_011516444.1:p.Leu375SerfsTer2
XM_011518143.1:c.1114_1115dup	XP_011516445.1:p.Leu373SerfsTer2
XM_011518144.1:c.1429_1430dup	XP_011516446.1:p.Asp478ArgfsTer15
XM_011518145.1:c.973_974dup	XP_011516447.1:p.Leu326SerfsTer2
XM_011518146.1:c.1114_1115dup	XP_011516448.1:p.Asp373ArgfsTer15
XM_011518147.1:c.301_302dup	XP_011516449.1:p.Leu102SerfsTer2
XR_929703.1:n.1605_1606dup
NM_001353193.1:c.1429_1430dup	NP_001340122.1:p.Leu478SerfsTer2
NM_001353194.1:c.1201_1202dup	NP_001340123.1:p.Leu402SerfsTer2
NM_001353195.1:c.1012_1013dup	NP_001340124.1:p.Leu339SerfsTer2
NM_001353196.1:c.1273_1274dup	NP_001340125.1:p.Leu426SerfsTer2
NM_001353197.1:c.1267_1268dup	NP_001340126.1:p.Leu424SerfsTer2
NM_001353198.1:c.1267_1268dup	NP_001340127.1:p.Leu424SerfsTer2
NM_001353199.1:c.1078_1079dup	NP_001340128.1:p.Leu361SerfsTer2
NM_001353200.1:c.907_908dup	NP_001340129.1:p.Leu304SerfsTer2
NR_148391.1:n.1413_1414dup
NR_148392.1:n.1631_1632dup
NR_148393.1:n.1413_1414dup
NR_148394.1:n.1306_1307dup
NR_148395.1:n.1565_1566dup
NR_148396.1:n.1199_1200dup
NR_148397.1:n.1463_1464dup
NR_148398.1:n.1418_1419dup
NR_148399.1:n.1805_1806dup
NR_148400.1:n.1404_1405dup
XM_005272162.3:c.232_233dup	XP_005272219.1:p.Leu79SerfsTer2
XM_006716932.2:c.1078_1079dup	XP_006716995.1:p.Leu361SerfsTer2
XM_011518140.2:c.1282_1283dup	XP_011516442.1:p.Leu429SerfsTer2
XM_011518141.2:c.1216_1217dup	XP_011516443.1:p.Leu407SerfsTer2
XM_011518142.2:c.1120_1121dup	XP_011516444.1:p.Leu375SerfsTer2
XM_011518143.2:c.1114_1115dup	XP_011516445.1:p.Leu373SerfsTer2
XM_011518145.2:c.973_974dup	XP_011516447.1:p.Leu326SerfsTer2
XM_017014205.2:c.232_233dup	XP_016869694.1:p.Leu79SerfsTer2
XM_024447380.1:c.232_233dup	XP_024303148.1:p.Leu79SerfsTer2
XM_024447381.1:c.538_539dup	XP_024303149.1:p.Leu181SerfsTer2
XM_024447382.1:c.232_233dup	XP_024303150.1:p.Leu79SerfsTer2
XR_001746160.2:n.1533_1534dup
XR_001746162.2:n.1599_1600dup
XR_001746164.1:n.1316_1317dup
XR_001746166.2:n.1750_1751dup
NM_001077365.2:c.1363_1364dup MANE Select	NP_001070833.1:p.Leu456SerfsTer2
NM_001077366.2:c.1201_1202dup	NP_001070834.1:p.Leu402SerfsTer2
NM_001136113.2:c.1363_1364dup	NP_001129585.1:p.Leu456SerfsTer2
NM_001136114.2:c.1012_1013dup	NP_001129586.1:p.Leu339SerfsTer2
NM_001353193.2:c.1429_1430dup	NP_001340122.2:p.Leu478SerfsTer2
NM_001353194.2:c.1201_1202dup	NP_001340123.1:p.Leu402SerfsTer2
NM_001353195.2:c.1012_1013dup	NP_001340124.1:p.Leu339SerfsTer2
NM_001353196.2:c.1273_1274dup	NP_001340125.1:p.Leu426SerfsTer2
NM_001353197.2:c.1267_1268dup	NP_001340126.2:p.Leu424SerfsTer2
NM_001353198.2:c.1267_1268dup	NP_001340127.2:p.Leu424SerfsTer2
NM_001353199.2:c.1078_1079dup	NP_001340128.2:p.Leu361SerfsTer2
NM_001353200.2:c.907_908dup	NP_001340129.1:p.Leu304SerfsTer2
NM_001374689.1:c.1351_1352dup	NP_001361618.1:p.Leu452SerfsTer2
NM_001374690.1:c.1363_1364dup	NP_001361619.1:p.Trp456SerfsTer7
NM_001374691.1:c.1012_1013dup	NP_001361620.1:p.Leu339SerfsTer2
NM_001374692.1:c.1012_1013dup	NP_001361621.1:p.Leu339SerfsTer2
NM_001374693.1:c.1012_1013dup	NP_001361622.1:p.Leu339SerfsTer2
NM_001374695.1:c.973_974dup	NP_001361624.1:p.Leu326SerfsTer2
NM_007171.4:c.1429_1430dup	NP_009102.4:p.Leu478SerfsTer2
NR_148391.2:n.1397_1398dup
NR_148392.2:n.1615_1616dup
NR_148393.2:n.1397_1398dup
NR_148394.2:n.1290_1291dup
NR_148395.2:n.1549_1550dup
NR_148396.2:n.1183_1184dup
NR_148397.2:n.1447_1448dup
NR_148398.2:n.1402_1403dup
NR_148399.2:n.1789_1790dup
NR_148400.2:n.1388_1389dup