Canonical Allele Identifier: CA2692219501

Gene: POMT1

Linked Data

• gnomAD v4: 9-131522068-T-TGGCTGGGGCGCTGTGTGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522071_131522089dup , CM000671.2:g.131522071_131522089dup	GRCh38
NC_000009.11:g.134397458_134397476dup , CM000671.1:g.134397458_134397476dup	GRCh37
NC_000009.10:g.133387279_133387297dup	NCBI36
NG_008896.1:g.24170_24188dup
NG_008896.2:g.24170_24188dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.1688_1706dup	ENSP00000343034.7:p.Gly570TrpfsTer?
ENST00000404875.7:n.2390_2408dup
ENST00000423007.6:c.1907_1925dup	ENSP00000404119.2:p.Gly643TrpfsTer?
ENST00000677295.2:c.*2194_*2212dup	ENSP00000504346.2:n.*2194_*2212dup
ENST00000678264.2:c.*2033_*2051dup	ENSP00000503157.2:n.*2033_*2051dup
ENST00000682070.1:n.2291-131_2291-113dup
ENST00000682813.1:n.2254_2272dup
ENST00000683392.1:n.4573-131_4573-113dup
ENST00000683712.1:n.2255_2273dup
ENST00000683900.1:n.3750_3768dup
ENST00000684062.1:n.2516_2534dup
ENST00000684579.1:n.3696_3714dup
ENST00000684679.1:n.1077_1095dup
ENST00000341012.12:c.1688_1706dup	ENSP00000343034.7:p.Gly570TrpfsTer?
ENST00000372220.5:c.719_737dup	ENSP00000361294.5:p.Gly247TrpfsTer?
ENST00000372228.9:c.1916_1934dup	ENSP00000361302.3:p.Gly646TrpfsTer?
ENST00000402686.8:c.1850_1868dup MANE Select	ENSP00000385797.4:p.Gly624TrpfsTer?
ENST00000676640.1:c.1850_1868dup	ENSP00000503281.1:p.Gly624TrpfsTer?
ENST00000676803.1:c.911_929dup	ENSP00000503093.1:p.Gly311TrpfsTer?
ENST00000676835.1:c.*1065_*1083dup	ENSP00000502911.1:n.*1065_*1083dup
ENST00000677029.1:c.1394_1412dup	ENSP00000502936.1:p.Gly472TrpfsTer?
ENST00000677099.1:c.*1560_*1578dup	ENSP00000504553.1:n.*1560_*1578dup
ENST00000677216.1:c.1499_1517dup	ENSP00000503772.1:p.Gly507TrpfsTer?
ENST00000677221.1:n.875_893dup
ENST00000677295.1:c.*1203-131_*1203-113dup	ENSP00000504346.1:n.*1203-131_*1203-113du...
ENST00000677444.1:c.1795_1813dup
ENST00000677586.1:n.1217_1235dup
ENST00000677626.1:c.1499_1517dup	ENSP00000503552.1:p.Gly507TrpfsTer?
ENST00000677853.1:c.*858_*876dup	ENSP00000503488.1:n.*858_*876dup
ENST00000678202.1:n.1009_1027dup
ENST00000678264.1:c.*1227_*1245dup	ENSP00000503157.1:n.*1227_*1245dup
ENST00000678303.1:c.1760_1778dup	ENSP00000503696.1:p.Gly594TrpfsTer?
ENST00000678366.1:c.*2099_*2117dup	ENSP00000504353.1:n.*2099_*2117dup
ENST00000678546.1:c.*1795_*1813dup	ENSP00000503062.1:n.*1795_*1813dup
ENST00000678548.1:c.*1989_*2007dup	ENSP00000503934.1:n.*1989_*2007dup
ENST00000678626.1:n.1686_1704dup
ENST00000678739.1:c.*2147-131_*2147-113dup	ENSP00000503806.1:n.*2147-131_*2147-113du...
ENST00000678833.1:c.*1602_*1620dup	ENSP00000503893.1:n.*1602_*1620dup
ENST00000679023.1:c.1688_1706dup	ENSP00000503718.1:p.Gly570TrpfsTer?
ENST00000679076.1:c.1469_1487dup
ENST00000679111.1:c.*606_*624dup	ENSP00000504257.1:n.*606_*624dup
ENST00000679189.1:c.1499_1517dup	ENSP00000503356.1:p.Gly507TrpfsTer?
ENST00000341012.11:c.1688_1706dup	ENSP00000343034.7:p.Gly570TrpfsTer?
ENST00000372220.4:c.713_731dup	ENSP00000361294.4:p.Gly245TrpfsTer?
ENST00000372228.7:c.1916_1934dup	ENSP00000361302.3:p.Gly646TrpfsTer?
ENST00000402686.7:c.1850_1868dup	ENSP00000385797.3:p.Gly624TrpfsTer?
ENST00000404875.6:c.1499_1517dup	ENSP00000384531.2:p.Gly507TrpfsTer?
ENST00000423007.5:c.1850_1868dup	ENSP00000404119.1:p.Gly624TrpfsTer?
ENST00000485278.5:n.2400_2418dup
ENST00000494883.1:n.393_411dup
NM_001077365.1:c.1850_1868dup	NP_001070833.1:p.Gly624TrpfsTer?
NM_001077366.1:c.1688_1706dup	NP_001070834.1:p.Gly570TrpfsTer?
NM_001136113.1:c.1850_1868dup	NP_001129585.1:p.Gly624TrpfsTer?
NM_001136114.1:c.1499_1517dup	NP_001129586.1:p.Gly507TrpfsTer?
NM_007171.3:c.1916_1934dup	NP_009102.3:p.Gly646TrpfsTer?
XM_005272156.1:c.1916_1934dup	XP_005272213.1:p.Gly646TrpfsTer?
XM_005272158.1:c.1754_1772dup	XP_005272215.1:p.Gly592TrpfsTer?
XM_005272159.1:c.1565_1583dup	XP_005272216.1:p.Gly529TrpfsTer?
XM_005272162.1:c.719_737dup	XP_005272219.1:p.Gly247TrpfsTer?
XM_006716932.1:c.1565_1583dup	XP_006716995.1:p.Gly529TrpfsTer?
XM_011518140.1:c.1769_1787dup	XP_011516442.1:p.Gly597TrpfsTer?
XM_011518141.1:c.1703_1721dup	XP_011516443.1:p.Gly575TrpfsTer?
XM_011518142.1:c.1607_1625dup	XP_011516444.1:p.Gly543TrpfsTer?
XM_011518143.1:c.1601_1619dup	XP_011516445.1:p.Gly541TrpfsTer?
XM_011518145.1:c.1460_1478dup	XP_011516447.1:p.Gly494TrpfsTer?
XM_011518147.1:c.788_806dup	XP_011516449.1:p.Gly270TrpfsTer?
XR_929703.1:n.2092_2110dup
NM_001353193.1:c.1916_1934dup	NP_001340122.1:p.Gly646TrpfsTer?
NM_001353194.1:c.1688_1706dup	NP_001340123.1:p.Gly570TrpfsTer?
NM_001353195.1:c.1499_1517dup	NP_001340124.1:p.Gly507TrpfsTer?
NM_001353196.1:c.1760_1778dup	NP_001340125.1:p.Gly594TrpfsTer?
NM_001353197.1:c.1754_1772dup	NP_001340126.1:p.Gly592TrpfsTer?
NM_001353198.1:c.1754_1772dup	NP_001340127.1:p.Gly592TrpfsTer?
NM_001353199.1:c.1565_1583dup	NP_001340128.1:p.Gly529TrpfsTer?
NM_001353200.1:c.1394_1412dup	NP_001340129.1:p.Gly472TrpfsTer?
NR_148391.1:n.1900_1918dup
NR_148392.1:n.2118_2136dup
NR_148393.1:n.2039_2057dup
NR_148394.1:n.1793_1811dup
NR_148395.1:n.2191_2209dup
NR_148396.1:n.1825_1843dup
NR_148397.1:n.1950_1968dup
NR_148398.1:n.1905_1923dup
NR_148399.1:n.2431_2449dup
NR_148400.1:n.2030_2048dup
XM_005272162.3:c.719_737dup	XP_005272219.1:p.Gly247TrpfsTer?
XM_006716932.2:c.1565_1583dup	XP_006716995.1:p.Gly529TrpfsTer?
XM_011518140.2:c.1769_1787dup	XP_011516442.1:p.Gly597TrpfsTer?
XM_011518141.2:c.1703_1721dup	XP_011516443.1:p.Gly575TrpfsTer?
XM_011518142.2:c.1607_1625dup	XP_011516444.1:p.Gly543TrpfsTer?
XM_011518143.2:c.1601_1619dup	XP_011516445.1:p.Gly541TrpfsTer?
XM_011518145.2:c.1460_1478dup	XP_011516447.1:p.Gly494TrpfsTer?
XM_017014205.2:c.719_737dup	XP_016869694.1:p.Gly247TrpfsTer?
XM_024447380.1:c.719_737dup	XP_024303148.1:p.Gly247TrpfsTer?
XM_024447381.1:c.1025_1043dup	XP_024303149.1:p.Gly349TrpfsTer?
XM_024447382.1:c.719_737dup	XP_024303150.1:p.Gly247TrpfsTer?
XR_001746160.2:n.2020_2038dup
XR_001746162.2:n.2225_2243dup
XR_001746164.1:n.1942_1960dup
XR_001746166.2:n.2237_2255dup
NM_001077365.2:c.1850_1868dup MANE Select	NP_001070833.1:p.Gly624TrpfsTer?
NM_001077366.2:c.1688_1706dup	NP_001070834.1:p.Gly570TrpfsTer?
NM_001136113.2:c.1850_1868dup	NP_001129585.1:p.Gly624TrpfsTer?
NM_001136114.2:c.1499_1517dup	NP_001129586.1:p.Gly507TrpfsTer?
NM_001353193.2:c.1916_1934dup	NP_001340122.2:p.Gly646TrpfsTer?
NM_001353194.2:c.1688_1706dup	NP_001340123.1:p.Gly570TrpfsTer?
NM_001353195.2:c.1499_1517dup	NP_001340124.1:p.Gly507TrpfsTer?
NM_001353196.2:c.1760_1778dup	NP_001340125.1:p.Gly594TrpfsTer?
NM_001353197.2:c.1754_1772dup	NP_001340126.2:p.Gly592TrpfsTer?
NM_001353198.2:c.1754_1772dup	NP_001340127.2:p.Gly592TrpfsTer?
NM_001353199.2:c.1565_1583dup	NP_001340128.2:p.Gly529TrpfsTer?
NM_001353200.2:c.1394_1412dup	NP_001340129.1:p.Gly472TrpfsTer?
NM_001374689.1:c.1838_1856dup	NP_001361618.1:p.Gly620TrpfsTer?
NM_001374690.1:c.1631_1649dup	NP_001361619.1:p.Gly551TrpfsTer?
NM_001374691.1:c.1499_1517dup	NP_001361620.1:p.Gly507TrpfsTer?
NM_001374692.1:c.1499_1517dup	NP_001361621.1:p.Gly507TrpfsTer?
NM_001374693.1:c.1499_1517dup	NP_001361622.1:p.Gly507TrpfsTer?
NM_001374695.1:c.1460_1478dup	NP_001361624.1:p.Gly494TrpfsTer?
NM_007171.4:c.1916_1934dup	NP_009102.4:p.Gly646TrpfsTer?
NR_148391.2:n.1884_1902dup
NR_148392.2:n.2102_2120dup
NR_148393.2:n.2023_2041dup
NR_148394.2:n.1777_1795dup
NR_148395.2:n.2175_2193dup
NR_148396.2:n.1809_1827dup
NR_148397.2:n.1934_1952dup
NR_148398.2:n.1889_1907dup
NR_148399.2:n.2415_2433dup
NR_148400.2:n.2014_2032dup