Canonical Allele Identifier: CA2741059122

Gene: POMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523084_131523085insATATCTTAAAACCACTTTCGC , CM000671.2:g.131523084_131523085insATATCTTAAAACCACTTTCGC	GRCh38
NC_000009.11:g.134398471_134398472insATATCTTAAAACCACTTTCGC , CM000671.1:g.134398471_134398472insATATCTTAAAACCACTTTCGC	GRCh37
NC_000009.10:g.133388292_133388293insATATCTTAAAACCACTTTCGC	NCBI36
NG_008896.1:g.25183_25184insATATCTTAAAACCACTTTCGC
NG_008896.2:g.25183_25184insATATCTTAAAACCACTTTCGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1994_1995insATATCTTAAAACCACTTTCGC	ENSP00000343034.7:p.Asp665delinsGluTyrLeuLysThrThrPheAla
ENST00000404875.7:n.2696_2697insATATCTTAAAACCACTTTCGC
ENST00000423007.6:c.2213_2214insATATCTTAAAACCACTTTCGC	ENSP00000404119.2:p.Asp738delinsGluTyrLeuLysThrThrPheAla
ENST00000677295.2:c.*2500_*2501insATATCTTAAAACCACTTTCGC	ENSP00000504346.2:n.*2500_*2501insATATCTTAAAACCACTTTCGC
ENST00000678264.2:c.*2339_*2340insATATCTTAAAACCACTTTCGC	ENSP00000503157.2:n.*2339_*2340insATATCTTAAAACCACTTTCGC
ENST00000682070.1:n.2466_2467insATATCTTAAAACCACTTTCGC
ENST00000682639.1:c.153_154insATATCTTAAAACCACTTTCGC
ENST00000682813.1:n.2553_2554insATATCTTAAAACCACTTTCGC
ENST00000683231.1:c.153_154insATATCTTAAAACCACTTTCGC
ENST00000683392.1:n.4748_4749insATATCTTAAAACCACTTTCGC
ENST00000683712.1:n.2561_2562insATATCTTAAAACCACTTTCGC
ENST00000683900.1:n.4056_4057insATATCTTAAAACCACTTTCGC
ENST00000684062.1:n.2822_2823insATATCTTAAAACCACTTTCGC
ENST00000684399.1:c.153_154insATATCTTAAAACCACTTTCGC
ENST00000684579.1:n.4002_4003insATATCTTAAAACCACTTTCGC
ENST00000341012.12:c.1994_1995insATATCTTAAAACCACTTTCGC	ENSP00000343034.7:p.Asp665delinsGluTyrLeuLysThrThrPheAla
ENST00000372220.5:c.1025_1026insATATCTTAAAACCACTTTCGC	ENSP00000361294.5:p.Asp342delinsGluTyrLeuLysThrThrPheAla
ENST00000372228.9:c.2222_2223insATATCTTAAAACCACTTTCGC	ENSP00000361302.3:p.Asp741delinsGluTyrLeuLysThrThrPheAla
ENST00000402686.8:c.2156_2157insATATCTTAAAACCACTTTCGC MANE Select	ENSP00000385797.4:p.Asp719delinsGluTyrLeuLysThrThrPheAla
ENST00000676640.1:c.2156_2157insATATCTTAAAACCACTTTCGC	ENSP00000503281.1:p.Asp719delinsGluTyrLeuLysThrThrPheAla
ENST00000676803.1:c.1217_1218insATATCTTAAAACCACTTTCGC	ENSP00000503093.1:p.Asp406delinsGluTyrLeuLysThrThrPheAla
ENST00000676835.1:c.*1371_*1372insATATCTTAAAACCACTTTCGC	ENSP00000502911.1:n.*1371_*1372insATATCTTAAAACCACTTTCGC
ENST00000677029.1:c.1700_1701insATATCTTAAAACCACTTTCGC	ENSP00000502936.1:p.Asp567delinsGluTyrLeuLysThrThrPheAla
ENST00000677099.1:c.*1866_*1867insATATCTTAAAACCACTTTCGC	ENSP00000504553.1:n.*1866_*1867insATATCTTAAAACCACTTTCGC
ENST00000677216.1:c.1805_1806insATATCTTAAAACCACTTTCGC	ENSP00000503772.1:p.Asp602delinsGluTyrLeuLysThrThrPheAla
ENST00000677295.1:c.*1378_*1379insATATCTTAAAACCACTTTCGC	ENSP00000504346.1:n.*1378_*1379insATATCTTAAAACCACTTTCGC
ENST00000677444.1:c.2101_2102insATATCTTAAAACCACTTTCGC
ENST00000677586.1:n.1523_1524insATATCTTAAAACCACTTTCGC
ENST00000677626.1:c.1805_1806insATATCTTAAAACCACTTTCGC	ENSP00000503552.1:p.Asp602delinsGluTyrLeuLysThrThrPheAla
ENST00000677853.1:c.*1164_*1165insATATCTTAAAACCACTTTCGC	ENSP00000503488.1:n.*1164_*1165insATATCTTAAAACCACTTTCGC
ENST00000678264.1:c.*1533_*1534insATATCTTAAAACCACTTTCGC	ENSP00000503157.1:n.*1533_*1534insATATCTTAAAACCACTTTCGC
ENST00000678303.1:c.2066_2067insATATCTTAAAACCACTTTCGC	ENSP00000503696.1:p.Asp689delinsGluTyrLeuLysThrThrPheAla
ENST00000678366.1:c.*2405_*2406insATATCTTAAAACCACTTTCGC	ENSP00000504353.1:n.*2405_*2406insATATCTTAAAACCACTTTCGC
ENST00000678546.1:c.*2101_*2102insATATCTTAAAACCACTTTCGC	ENSP00000503062.1:n.*2101_*2102insATATCTTAAAACCACTTTCGC
ENST00000678548.1:c.*2295_*2296insATATCTTAAAACCACTTTCGC	ENSP00000503934.1:n.*2295_*2296insATATCTTAAAACCACTTTCGC
ENST00000678626.1:n.1992_1993insATATCTTAAAACCACTTTCGC
ENST00000678739.1:c.*2322_*2323insATATCTTAAAACCACTTTCGC	ENSP00000503806.1:n.*2322_*2323insATATCTTAAAACCACTTTCGC
ENST00000678833.1:c.*1908_*1909insATATCTTAAAACCACTTTCGC	ENSP00000503893.1:n.*1908_*1909insATATCTTAAAACCACTTTCGC
ENST00000679023.1:c.1994_1995insATATCTTAAAACCACTTTCGC	ENSP00000503718.1:p.Asp665delinsGluTyrLeuLysThrThrPheAla
ENST00000679076.1:c.1775_1776insATATCTTAAAACCACTTTCGC
ENST00000679111.1:c.*912_*913insATATCTTAAAACCACTTTCGC	ENSP00000504257.1:n.*912_*913insATATCTTAAAACCACTTTCGC
ENST00000679189.1:c.1805_1806insATATCTTAAAACCACTTTCGC	ENSP00000503356.1:p.Asp602delinsGluTyrLeuLysThrThrPheAla
ENST00000341012.11:c.1994_1995insATATCTTAAAACCACTTTCGC	ENSP00000343034.7:p.Asp665delinsGluTyrLeuLysThrThrPheAla
ENST00000372220.4:c.1019_1020insATATCTTAAAACCACTTTCGC	ENSP00000361294.4:p.Asp340delinsGluTyrLeuLysThrThrPheAla
ENST00000372228.7:c.2222_2223insATATCTTAAAACCACTTTCGC	ENSP00000361302.3:p.Asp741delinsGluTyrLeuLysThrThrPheAla
ENST00000402686.7:c.2156_2157insATATCTTAAAACCACTTTCGC	ENSP00000385797.3:p.Asp719delinsGluTyrLeuLysThrThrPheAla
ENST00000404875.6:c.1805_1806insATATCTTAAAACCACTTTCGC	ENSP00000384531.2:p.Asp602delinsGluTyrLeuLysThrThrPheAla
ENST00000423007.5:c.2156_2157insATATCTTAAAACCACTTTCGC	ENSP00000404119.1:p.Asp719delinsGluTyrLeuLysThrThrPheAla
ENST00000485278.5:n.2706_2707insATATCTTAAAACCACTTTCGC
NM_001077365.1:c.2156_2157insATATCTTAAAACCACTTTCGC	NP_001070833.1:p.Asp719delinsGluTyrLeuLysThrThrPheAla
NM_001077366.1:c.1994_1995insATATCTTAAAACCACTTTCGC	NP_001070834.1:p.Asp665delinsGluTyrLeuLysThrThrPheAla
NM_001136113.1:c.2156_2157insATATCTTAAAACCACTTTCGC	NP_001129585.1:p.Asp719delinsGluTyrLeuLysThrThrPheAla
NM_001136114.1:c.1805_1806insATATCTTAAAACCACTTTCGC	NP_001129586.1:p.Asp602delinsGluTyrLeuLysThrThrPheAla
NM_007171.3:c.2222_2223insATATCTTAAAACCACTTTCGC	NP_009102.3:p.Asp741delinsGluTyrLeuLysThrThrPheAla
XM_005272156.1:c.2222_2223insATATCTTAAAACCACTTTCGC	XP_005272213.1:p.Asp741delinsGluTyrLeuLysThrThrPheAla
XM_005272158.1:c.2060_2061insATATCTTAAAACCACTTTCGC	XP_005272215.1:p.Asp687delinsGluTyrLeuLysThrThrPheAla
XM_005272159.1:c.1871_1872insATATCTTAAAACCACTTTCGC	XP_005272216.1:p.Asp624delinsGluTyrLeuLysThrThrPheAla
XM_005272162.1:c.1025_1026insATATCTTAAAACCACTTTCGC	XP_005272219.1:p.Asp342delinsGluTyrLeuLysThrThrPheAla
XM_006716932.1:c.1871_1872insATATCTTAAAACCACTTTCGC	XP_006716995.1:p.Asp624delinsGluTyrLeuLysThrThrPheAla
XM_011518140.1:c.2075_2076insATATCTTAAAACCACTTTCGC	XP_011516442.1:p.Asp692delinsGluTyrLeuLysThrThrPheAla
XM_011518141.1:c.2009_2010insATATCTTAAAACCACTTTCGC	XP_011516443.1:p.Asp670delinsGluTyrLeuLysThrThrPheAla
XM_011518142.1:c.1913_1914insATATCTTAAAACCACTTTCGC	XP_011516444.1:p.Asp638delinsGluTyrLeuLysThrThrPheAla
XM_011518143.1:c.1907_1908insATATCTTAAAACCACTTTCGC	XP_011516445.1:p.Asp636delinsGluTyrLeuLysThrThrPheAla
XM_011518145.1:c.1766_1767insATATCTTAAAACCACTTTCGC	XP_011516447.1:p.Asp589delinsGluTyrLeuLysThrThrPheAla
XM_011518147.1:c.1094_1095insATATCTTAAAACCACTTTCGC	XP_011516449.1:p.Asp365delinsGluTyrLeuLysThrThrPheAla
XR_929703.1:n.2398_2399insATATCTTAAAACCACTTTCGC
NM_001353193.1:c.2222_2223insATATCTTAAAACCACTTTCGC	NP_001340122.1:p.Asp741delinsGluTyrLeuLysThrThrPheAla
NM_001353194.1:c.1994_1995insATATCTTAAAACCACTTTCGC	NP_001340123.1:p.Asp665delinsGluTyrLeuLysThrThrPheAla
NM_001353195.1:c.1805_1806insATATCTTAAAACCACTTTCGC	NP_001340124.1:p.Asp602delinsGluTyrLeuLysThrThrPheAla
NM_001353196.1:c.2066_2067insATATCTTAAAACCACTTTCGC	NP_001340125.1:p.Asp689delinsGluTyrLeuLysThrThrPheAla
NM_001353197.1:c.2060_2061insATATCTTAAAACCACTTTCGC	NP_001340126.1:p.Asp687delinsGluTyrLeuLysThrThrPheAla
NM_001353198.1:c.2060_2061insATATCTTAAAACCACTTTCGC	NP_001340127.1:p.Asp687delinsGluTyrLeuLysThrThrPheAla
NM_001353199.1:c.1871_1872insATATCTTAAAACCACTTTCGC	NP_001340128.1:p.Asp624delinsGluTyrLeuLysThrThrPheAla
NM_001353200.1:c.1700_1701insATATCTTAAAACCACTTTCGC	NP_001340129.1:p.Asp567delinsGluTyrLeuLysThrThrPheAla
NR_148391.1:n.2206_2207insATATCTTAAAACCACTTTCGC
NR_148392.1:n.2424_2425insATATCTTAAAACCACTTTCGC
NR_148393.1:n.2345_2346insATATCTTAAAACCACTTTCGC
NR_148394.1:n.2099_2100insATATCTTAAAACCACTTTCGC
NR_148395.1:n.2497_2498insATATCTTAAAACCACTTTCGC
NR_148396.1:n.2131_2132insATATCTTAAAACCACTTTCGC
NR_148397.1:n.2256_2257insATATCTTAAAACCACTTTCGC
NR_148398.1:n.2211_2212insATATCTTAAAACCACTTTCGC
NR_148399.1:n.2737_2738insATATCTTAAAACCACTTTCGC
NR_148400.1:n.2336_2337insATATCTTAAAACCACTTTCGC
XM_005272162.3:c.1025_1026insATATCTTAAAACCACTTTCGC	XP_005272219.1:p.Asp342delinsGluTyrLeuLysThrThrPheAla
XM_006716932.2:c.1871_1872insATATCTTAAAACCACTTTCGC	XP_006716995.1:p.Asp624delinsGluTyrLeuLysThrThrPheAla
XM_011518140.2:c.2075_2076insATATCTTAAAACCACTTTCGC	XP_011516442.1:p.Asp692delinsGluTyrLeuLysThrThrPheAla
XM_011518141.2:c.2009_2010insATATCTTAAAACCACTTTCGC	XP_011516443.1:p.Asp670delinsGluTyrLeuLysThrThrPheAla
XM_011518142.2:c.1913_1914insATATCTTAAAACCACTTTCGC	XP_011516444.1:p.Asp638delinsGluTyrLeuLysThrThrPheAla
XM_011518143.2:c.1907_1908insATATCTTAAAACCACTTTCGC	XP_011516445.1:p.Asp636delinsGluTyrLeuLysThrThrPheAla
XM_011518145.2:c.1766_1767insATATCTTAAAACCACTTTCGC	XP_011516447.1:p.Asp589delinsGluTyrLeuLysThrThrPheAla
XM_017014205.2:c.1025_1026insATATCTTAAAACCACTTTCGC	XP_016869694.1:p.Asp342delinsGluTyrLeuLysThrThrPheAla
XM_024447380.1:c.1025_1026insATATCTTAAAACCACTTTCGC	XP_024303148.1:p.Asp342delinsGluTyrLeuLysThrThrPheAla
XM_024447381.1:c.1331_1332insATATCTTAAAACCACTTTCGC	XP_024303149.1:p.Asp444delinsGluTyrLeuLysThrThrPheAla
XM_024447382.1:c.1025_1026insATATCTTAAAACCACTTTCGC	XP_024303150.1:p.Asp342delinsGluTyrLeuLysThrThrPheAla
XR_001746160.2:n.2326_2327insATATCTTAAAACCACTTTCGC
XR_001746162.2:n.2531_2532insATATCTTAAAACCACTTTCGC
XR_001746164.1:n.2248_2249insATATCTTAAAACCACTTTCGC
XR_001746166.2:n.2543_2544insATATCTTAAAACCACTTTCGC
NM_001077365.2:c.2156_2157insATATCTTAAAACCACTTTCGC MANE Select	NP_001070833.1:p.Asp719delinsGluTyrLeuLysThrThrPheAla
NM_001077366.2:c.1994_1995insATATCTTAAAACCACTTTCGC	NP_001070834.1:p.Asp665delinsGluTyrLeuLysThrThrPheAla
NM_001136113.2:c.2156_2157insATATCTTAAAACCACTTTCGC	NP_001129585.1:p.Asp719delinsGluTyrLeuLysThrThrPheAla
NM_001136114.2:c.1805_1806insATATCTTAAAACCACTTTCGC	NP_001129586.1:p.Asp602delinsGluTyrLeuLysThrThrPheAla
NM_001353193.2:c.2222_2223insATATCTTAAAACCACTTTCGC	NP_001340122.2:p.Asp741delinsGluTyrLeuLysThrThrPheAla
NM_001353194.2:c.1994_1995insATATCTTAAAACCACTTTCGC	NP_001340123.1:p.Asp665delinsGluTyrLeuLysThrThrPheAla
NM_001353195.2:c.1805_1806insATATCTTAAAACCACTTTCGC	NP_001340124.1:p.Asp602delinsGluTyrLeuLysThrThrPheAla
NM_001353196.2:c.2066_2067insATATCTTAAAACCACTTTCGC	NP_001340125.1:p.Asp689delinsGluTyrLeuLysThrThrPheAla
NM_001353197.2:c.2060_2061insATATCTTAAAACCACTTTCGC	NP_001340126.2:p.Asp687delinsGluTyrLeuLysThrThrPheAla
NM_001353198.2:c.2060_2061insATATCTTAAAACCACTTTCGC	NP_001340127.2:p.Asp687delinsGluTyrLeuLysThrThrPheAla
NM_001353199.2:c.1871_1872insATATCTTAAAACCACTTTCGC	NP_001340128.2:p.Asp624delinsGluTyrLeuLysThrThrPheAla
NM_001353200.2:c.1700_1701insATATCTTAAAACCACTTTCGC	NP_001340129.1:p.Asp567delinsGluTyrLeuLysThrThrPheAla
NM_001374689.1:c.2144_2145insATATCTTAAAACCACTTTCGC	NP_001361618.1:p.Asp715delinsGluTyrLeuLysThrThrPheAla
NM_001374690.1:c.1937_1938insATATCTTAAAACCACTTTCGC	NP_001361619.1:p.Asp646delinsGluTyrLeuLysThrThrPheAla
NM_001374691.1:c.1805_1806insATATCTTAAAACCACTTTCGC	NP_001361620.1:p.Asp602delinsGluTyrLeuLysThrThrPheAla
NM_001374692.1:c.1805_1806insATATCTTAAAACCACTTTCGC	NP_001361621.1:p.Asp602delinsGluTyrLeuLysThrThrPheAla
NM_001374693.1:c.1805_1806insATATCTTAAAACCACTTTCGC	NP_001361622.1:p.Asp602delinsGluTyrLeuLysThrThrPheAla
NM_001374695.1:c.1766_1767insATATCTTAAAACCACTTTCGC	NP_001361624.1:p.Asp589delinsGluTyrLeuLysThrThrPheAla
NM_007171.4:c.2222_2223insATATCTTAAAACCACTTTCGC	NP_009102.4:p.Asp741delinsGluTyrLeuLysThrThrPheAla
NR_148391.2:n.2190_2191insATATCTTAAAACCACTTTCGC
NR_148392.2:n.2408_2409insATATCTTAAAACCACTTTCGC
NR_148393.2:n.2329_2330insATATCTTAAAACCACTTTCGC
NR_148394.2:n.2083_2084insATATCTTAAAACCACTTTCGC
NR_148395.2:n.2481_2482insATATCTTAAAACCACTTTCGC
NR_148396.2:n.2115_2116insATATCTTAAAACCACTTTCGC
NR_148397.2:n.2240_2241insATATCTTAAAACCACTTTCGC
NR_148398.2:n.2195_2196insATATCTTAAAACCACTTTCGC
NR_148399.2:n.2721_2722insATATCTTAAAACCACTTTCGC
NR_148400.2:n.2320_2321insATATCTTAAAACCACTTTCGC