Canonical Allele Identifier: CA590946807

Gene: POMT1

Linked Data

• ClinVar Variation Id: 2678020
• ClinVar RCV Id: RCV003472497
• dbSNP Id: rs1564390684
• gnomAD v2: 9-134397443-T-TGCGCTGGGTGCTGGCTGGG
• gnomAD v4: 9-131522056-T-TGCGCTGGGTGCTGGCTGGG
• MyVariant Identifiers: chr9:g.134397443_134397444insGCGCTGGGTGCTGGCTGGG (hg19) ; chr9:g.131522056_131522057insGCGCTGGGTGCTGGCTGGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522063_131522081dup , CM000671.2:g.131522063_131522081dup	GRCh38
NC_000009.11:g.134397450_134397468dup , CM000671.1:g.134397450_134397468dup	GRCh37
NC_000009.10:g.133387271_133387289dup	NCBI36
NG_008896.1:g.24162_24180dup
NG_008896.2:g.24162_24180dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.1680_1698dup	ENSP00000343034.7:p.Cys567GlyfsTer?
ENST00000404875.7:n.2382_2400dup
ENST00000423007.6:c.1899_1917dup	ENSP00000404119.2:p.Cys640GlyfsTer?
ENST00000677295.2:c.*2186_*2204dup	ENSP00000504346.2:n.*2186_*2204dup
ENST00000678264.2:c.*2025_*2043dup	ENSP00000503157.2:n.*2025_*2043dup
ENST00000682070.1:n.2291-139_2291-121dup
ENST00000682813.1:n.2246_2264dup
ENST00000683392.1:n.4573-139_4573-121dup
ENST00000683712.1:n.2247_2265dup
ENST00000683900.1:n.3742_3760dup
ENST00000684062.1:n.2508_2526dup
ENST00000684579.1:n.3688_3706dup
ENST00000684679.1:n.1069_1087dup
ENST00000341012.12:c.1680_1698dup	ENSP00000343034.7:p.Cys567GlyfsTer?
ENST00000372220.5:c.711_729dup	ENSP00000361294.5:p.Cys244GlyfsTer?
ENST00000372228.9:c.1908_1926dup	ENSP00000361302.3:p.Cys643GlyfsTer?
ENST00000402686.8:c.1842_1860dup MANE Select	ENSP00000385797.4:p.Cys621GlyfsTer?
ENST00000676640.1:c.1842_1860dup	ENSP00000503281.1:p.Cys621GlyfsTer?
ENST00000676803.1:c.903_921dup	ENSP00000503093.1:p.Cys308GlyfsTer?
ENST00000676835.1:c.*1057_*1075dup	ENSP00000502911.1:n.*1057_*1075dup
ENST00000677029.1:c.1386_1404dup	ENSP00000502936.1:p.Cys469GlyfsTer?
ENST00000677099.1:c.*1552_*1570dup	ENSP00000504553.1:n.*1552_*1570dup
ENST00000677216.1:c.1491_1509dup	ENSP00000503772.1:p.Cys504GlyfsTer?
ENST00000677221.1:n.867_885dup
ENST00000677295.1:c.*1203-139_*1203-121dup	ENSP00000504346.1:n.*1203-139_*1203-121du...
ENST00000677444.1:c.1787_1805dup
ENST00000677586.1:n.1209_1227dup
ENST00000677626.1:c.1491_1509dup	ENSP00000503552.1:p.Cys504GlyfsTer?
ENST00000677853.1:c.*850_*868dup	ENSP00000503488.1:n.*850_*868dup
ENST00000678202.1:n.1001_1019dup
ENST00000678264.1:c.*1219_*1237dup	ENSP00000503157.1:n.*1219_*1237dup
ENST00000678303.1:c.1752_1770dup	ENSP00000503696.1:p.Cys591GlyfsTer?
ENST00000678366.1:c.*2091_*2109dup	ENSP00000504353.1:n.*2091_*2109dup
ENST00000678546.1:c.*1787_*1805dup	ENSP00000503062.1:n.*1787_*1805dup
ENST00000678548.1:c.*1981_*1999dup	ENSP00000503934.1:n.*1981_*1999dup
ENST00000678626.1:n.1678_1696dup
ENST00000678739.1:c.*2147-139_*2147-121dup	ENSP00000503806.1:n.*2147-139_*2147-121du...
ENST00000678833.1:c.*1594_*1612dup	ENSP00000503893.1:n.*1594_*1612dup
ENST00000679023.1:c.1680_1698dup	ENSP00000503718.1:p.Cys567GlyfsTer?
ENST00000679076.1:c.1461_1479dup
ENST00000679111.1:c.*598_*616dup	ENSP00000504257.1:n.*598_*616dup
ENST00000679189.1:c.1491_1509dup	ENSP00000503356.1:p.Cys504GlyfsTer?
ENST00000341012.11:c.1680_1698dup	ENSP00000343034.7:p.Cys567GlyfsTer?
ENST00000372220.4:c.705_723dup	ENSP00000361294.4:p.Cys242GlyfsTer?
ENST00000372228.7:c.1908_1926dup	ENSP00000361302.3:p.Cys643GlyfsTer?
ENST00000402686.7:c.1842_1860dup	ENSP00000385797.3:p.Cys621GlyfsTer?
ENST00000404875.6:c.1491_1509dup	ENSP00000384531.2:p.Cys504GlyfsTer?
ENST00000423007.5:c.1842_1860dup	ENSP00000404119.1:p.Cys621GlyfsTer?
ENST00000485278.5:n.2392_2410dup
ENST00000494883.1:n.385_403dup
NM_001077365.1:c.1842_1860dup	NP_001070833.1:p.Cys621GlyfsTer?
NM_001077366.1:c.1680_1698dup	NP_001070834.1:p.Cys567GlyfsTer?
NM_001136113.1:c.1842_1860dup	NP_001129585.1:p.Cys621GlyfsTer?
NM_001136114.1:c.1491_1509dup	NP_001129586.1:p.Cys504GlyfsTer?
NM_007171.3:c.1908_1926dup	NP_009102.3:p.Cys643GlyfsTer?
XM_005272156.1:c.1908_1926dup	XP_005272213.1:p.Cys643GlyfsTer?
XM_005272158.1:c.1746_1764dup	XP_005272215.1:p.Cys589GlyfsTer?
XM_005272159.1:c.1557_1575dup	XP_005272216.1:p.Cys526GlyfsTer?
XM_005272162.1:c.711_729dup	XP_005272219.1:p.Cys244GlyfsTer?
XM_006716932.1:c.1557_1575dup	XP_006716995.1:p.Cys526GlyfsTer?
XM_011518140.1:c.1761_1779dup	XP_011516442.1:p.Cys594GlyfsTer?
XM_011518141.1:c.1695_1713dup	XP_011516443.1:p.Cys572GlyfsTer?
XM_011518142.1:c.1599_1617dup	XP_011516444.1:p.Cys540GlyfsTer?
XM_011518143.1:c.1593_1611dup	XP_011516445.1:p.Cys538GlyfsTer?
XM_011518145.1:c.1452_1470dup	XP_011516447.1:p.Cys491GlyfsTer?
XM_011518147.1:c.780_798dup	XP_011516449.1:p.Cys267GlyfsTer?
XR_929703.1:n.2084_2102dup
NM_001353193.1:c.1908_1926dup	NP_001340122.1:p.Cys643GlyfsTer?
NM_001353194.1:c.1680_1698dup	NP_001340123.1:p.Cys567GlyfsTer?
NM_001353195.1:c.1491_1509dup	NP_001340124.1:p.Cys504GlyfsTer?
NM_001353196.1:c.1752_1770dup	NP_001340125.1:p.Cys591GlyfsTer?
NM_001353197.1:c.1746_1764dup	NP_001340126.1:p.Cys589GlyfsTer?
NM_001353198.1:c.1746_1764dup	NP_001340127.1:p.Cys589GlyfsTer?
NM_001353199.1:c.1557_1575dup	NP_001340128.1:p.Cys526GlyfsTer?
NM_001353200.1:c.1386_1404dup	NP_001340129.1:p.Cys469GlyfsTer?
NR_148391.1:n.1892_1910dup
NR_148392.1:n.2110_2128dup
NR_148393.1:n.2031_2049dup
NR_148394.1:n.1785_1803dup
NR_148395.1:n.2183_2201dup
NR_148396.1:n.1817_1835dup
NR_148397.1:n.1942_1960dup
NR_148398.1:n.1897_1915dup
NR_148399.1:n.2423_2441dup
NR_148400.1:n.2022_2040dup
XM_005272162.3:c.711_729dup	XP_005272219.1:p.Cys244GlyfsTer?
XM_006716932.2:c.1557_1575dup	XP_006716995.1:p.Cys526GlyfsTer?
XM_011518140.2:c.1761_1779dup	XP_011516442.1:p.Cys594GlyfsTer?
XM_011518141.2:c.1695_1713dup	XP_011516443.1:p.Cys572GlyfsTer?
XM_011518142.2:c.1599_1617dup	XP_011516444.1:p.Cys540GlyfsTer?
XM_011518143.2:c.1593_1611dup	XP_011516445.1:p.Cys538GlyfsTer?
XM_011518145.2:c.1452_1470dup	XP_011516447.1:p.Cys491GlyfsTer?
XM_017014205.2:c.711_729dup	XP_016869694.1:p.Cys244GlyfsTer?
XM_024447380.1:c.711_729dup	XP_024303148.1:p.Cys244GlyfsTer?
XM_024447381.1:c.1017_1035dup	XP_024303149.1:p.Cys346GlyfsTer?
XM_024447382.1:c.711_729dup	XP_024303150.1:p.Cys244GlyfsTer?
XR_001746160.2:n.2012_2030dup
XR_001746162.2:n.2217_2235dup
XR_001746164.1:n.1934_1952dup
XR_001746166.2:n.2229_2247dup
NM_001077365.2:c.1842_1860dup MANE Select	NP_001070833.1:p.Cys621GlyfsTer?
NM_001077366.2:c.1680_1698dup	NP_001070834.1:p.Cys567GlyfsTer?
NM_001136113.2:c.1842_1860dup	NP_001129585.1:p.Cys621GlyfsTer?
NM_001136114.2:c.1491_1509dup	NP_001129586.1:p.Cys504GlyfsTer?
NM_001353193.2:c.1908_1926dup	NP_001340122.2:p.Cys643GlyfsTer?
NM_001353194.2:c.1680_1698dup	NP_001340123.1:p.Cys567GlyfsTer?
NM_001353195.2:c.1491_1509dup	NP_001340124.1:p.Cys504GlyfsTer?
NM_001353196.2:c.1752_1770dup	NP_001340125.1:p.Cys591GlyfsTer?
NM_001353197.2:c.1746_1764dup	NP_001340126.2:p.Cys589GlyfsTer?
NM_001353198.2:c.1746_1764dup	NP_001340127.2:p.Cys589GlyfsTer?
NM_001353199.2:c.1557_1575dup	NP_001340128.2:p.Cys526GlyfsTer?
NM_001353200.2:c.1386_1404dup	NP_001340129.1:p.Cys469GlyfsTer?
NM_001374689.1:c.1830_1848dup	NP_001361618.1:p.Cys617GlyfsTer?
NM_001374690.1:c.1623_1641dup	NP_001361619.1:p.Cys548GlyfsTer?
NM_001374691.1:c.1491_1509dup	NP_001361620.1:p.Cys504GlyfsTer?
NM_001374692.1:c.1491_1509dup	NP_001361621.1:p.Cys504GlyfsTer?
NM_001374693.1:c.1491_1509dup	NP_001361622.1:p.Cys504GlyfsTer?
NM_001374695.1:c.1452_1470dup	NP_001361624.1:p.Cys491GlyfsTer?
NM_007171.4:c.1908_1926dup	NP_009102.4:p.Cys643GlyfsTer?
NR_148391.2:n.1876_1894dup
NR_148392.2:n.2094_2112dup
NR_148393.2:n.2015_2033dup
NR_148394.2:n.1769_1787dup
NR_148395.2:n.2167_2185dup
NR_148396.2:n.1801_1819dup
NR_148397.2:n.1926_1944dup
NR_148398.2:n.1881_1899dup
NR_148399.2:n.2407_2425dup
NR_148400.2:n.2006_2024dup