Canonical Allele Identifier: CA1881758207

Gene: POMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522140_131522141delinsTC , CM000671.2:g.131522140_131522141delinsTC	GRCh38
NC_000009.11:g.134397527_134397528delinsTC , CM000671.1:g.134397527_134397528delinsTC	GRCh37
NC_000009.10:g.133387348_133387349delinsTC	NCBI36
NG_008896.1:g.24239_24240delinsTC
NG_008896.2:g.24239_24240delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1757_1758delinsTC	ENSP00000343034.7:p.Phe586=
ENST00000404875.7:n.2459_2460delinsTC
ENST00000423007.6:c.1976_1977delinsTC	ENSP00000404119.2:p.Phe659=
ENST00000677295.2:c.*2263_*2264delinsTC	ENSP00000504346.2:n.*2263_*2264delinsTC
ENST00000678264.2:c.*2102_*2103delinsTC	ENSP00000503157.2:n.*2102_*2103delinsTC
ENST00000682070.1:n.2291-62_2291-61delinsTC
ENST00000682813.1:n.2323_2324delinsTC
ENST00000683392.1:n.4573-62_4573-61delinsTC
ENST00000683712.1:n.2324_2325delinsTC
ENST00000683900.1:n.3819_3820delinsTC
ENST00000684062.1:n.2585_2586delinsTC
ENST00000684579.1:n.3765_3766delinsTC
ENST00000684679.1:n.1146_1147delinsTC
ENST00000341012.12:c.1757_1758delinsTC	ENSP00000343034.7:p.Phe586=
ENST00000372220.5:c.788_789delinsTC	ENSP00000361294.5:p.Phe263=
ENST00000372228.9:c.1985_1986delinsTC	ENSP00000361302.3:p.Phe662=
ENST00000402686.8:c.1919_1920delinsTC MANE Select	ENSP00000385797.4:p.Phe640=
ENST00000676640.1:c.1919_1920delinsTC	ENSP00000503281.1:p.Phe640=
ENST00000676803.1:c.980_981delinsTC	ENSP00000503093.1:p.Phe327=
ENST00000676835.1:c.*1134_*1135delinsTC	ENSP00000502911.1:n.*1134_*1135delinsTC
ENST00000677029.1:c.1463_1464delinsTC	ENSP00000502936.1:p.Phe488=
ENST00000677099.1:c.*1629_*1630delinsTC	ENSP00000504553.1:n.*1629_*1630delinsTC
ENST00000677216.1:c.1568_1569delinsTC	ENSP00000503772.1:p.Phe523=
ENST00000677221.1:n.944_945delinsTC
ENST00000677295.1:c.*1203-62_*1203-61delinsTC	ENSP00000504346.1:n.*1203-62_*1203-61delinsTC
ENST00000677444.1:c.1864_1865delinsTC
ENST00000677586.1:n.1286_1287delinsTC
ENST00000677626.1:c.1568_1569delinsTC	ENSP00000503552.1:p.Phe523=
ENST00000677853.1:c.*927_*928delinsTC	ENSP00000503488.1:n.*927_*928delinsTC
ENST00000678202.1:n.1078_1079delinsTC
ENST00000678264.1:c.*1296_*1297delinsTC	ENSP00000503157.1:n.*1296_*1297delinsTC
ENST00000678303.1:c.1829_1830delinsTC	ENSP00000503696.1:p.Phe610=
ENST00000678366.1:c.*2168_*2169delinsTC	ENSP00000504353.1:n.*2168_*2169delinsTC
ENST00000678546.1:c.*1864_*1865delinsTC	ENSP00000503062.1:n.*1864_*1865delinsTC
ENST00000678548.1:c.*2058_*2059delinsTC	ENSP00000503934.1:n.*2058_*2059delinsTC
ENST00000678626.1:n.1755_1756delinsTC
ENST00000678739.1:c.*2147-62_*2147-61delinsTC	ENSP00000503806.1:n.*2147-62_*2147-61delinsTC
ENST00000678833.1:c.*1671_*1672delinsTC	ENSP00000503893.1:n.*1671_*1672delinsTC
ENST00000679023.1:c.1757_1758delinsTC	ENSP00000503718.1:p.Phe586=
ENST00000679076.1:c.1538_1539delinsTC
ENST00000679111.1:c.*675_*676delinsTC	ENSP00000504257.1:n.*675_*676delinsTC
ENST00000679189.1:c.1568_1569delinsTC	ENSP00000503356.1:p.Phe523=
ENST00000341012.11:c.1757_1758delinsTC	ENSP00000343034.7:p.Phe586=
ENST00000372220.4:c.782_783delinsTC	ENSP00000361294.4:p.Phe261=
ENST00000372228.7:c.1985_1986delinsTC	ENSP00000361302.3:p.Phe662=
ENST00000402686.7:c.1919_1920delinsTC	ENSP00000385797.3:p.Phe640=
ENST00000404875.6:c.1568_1569delinsTC	ENSP00000384531.2:p.Phe523=
ENST00000423007.5:c.1919_1920delinsTC	ENSP00000404119.1:p.Phe640=
ENST00000485278.5:n.2469_2470delinsTC
ENST00000494883.1:n.462_463delinsTC
NM_001077365.1:c.1919_1920delinsTC	NP_001070833.1:p.Phe640=
NM_001077366.1:c.1757_1758delinsTC	NP_001070834.1:p.Phe586=
NM_001136113.1:c.1919_1920delinsTC	NP_001129585.1:p.Phe640=
NM_001136114.1:c.1568_1569delinsTC	NP_001129586.1:p.Phe523=
NM_007171.3:c.1985_1986delinsTC	NP_009102.3:p.Phe662=
XM_005272156.1:c.1985_1986delinsTC	XP_005272213.1:p.Phe662=
XM_005272158.1:c.1823_1824delinsTC	XP_005272215.1:p.Phe608=
XM_005272159.1:c.1634_1635delinsTC	XP_005272216.1:p.Phe545=
XM_005272162.1:c.788_789delinsTC	XP_005272219.1:p.Phe263=
XM_006716932.1:c.1634_1635delinsTC	XP_006716995.1:p.Phe545=
XM_011518140.1:c.1838_1839delinsTC	XP_011516442.1:p.Phe613=
XM_011518141.1:c.1772_1773delinsTC	XP_011516443.1:p.Phe591=
XM_011518142.1:c.1676_1677delinsTC	XP_011516444.1:p.Phe559=
XM_011518143.1:c.1670_1671delinsTC	XP_011516445.1:p.Phe557=
XM_011518145.1:c.1529_1530delinsTC	XP_011516447.1:p.Phe510=
XM_011518147.1:c.857_858delinsTC	XP_011516449.1:p.Phe286=
XR_929703.1:n.2161_2162delinsTC
NM_001353193.1:c.1985_1986delinsTC	NP_001340122.1:p.Phe662=
NM_001353194.1:c.1757_1758delinsTC	NP_001340123.1:p.Phe586=
NM_001353195.1:c.1568_1569delinsTC	NP_001340124.1:p.Phe523=
NM_001353196.1:c.1829_1830delinsTC	NP_001340125.1:p.Phe610=
NM_001353197.1:c.1823_1824delinsTC	NP_001340126.1:p.Phe608=
NM_001353198.1:c.1823_1824delinsTC	NP_001340127.1:p.Phe608=
NM_001353199.1:c.1634_1635delinsTC	NP_001340128.1:p.Phe545=
NM_001353200.1:c.1463_1464delinsTC	NP_001340129.1:p.Phe488=
NR_148391.1:n.1969_1970delinsTC
NR_148392.1:n.2187_2188delinsTC
NR_148393.1:n.2108_2109delinsTC
NR_148394.1:n.1862_1863delinsTC
NR_148395.1:n.2260_2261delinsTC
NR_148396.1:n.1894_1895delinsTC
NR_148397.1:n.2019_2020delinsTC
NR_148398.1:n.1974_1975delinsTC
NR_148399.1:n.2500_2501delinsTC
NR_148400.1:n.2099_2100delinsTC
XM_005272162.3:c.788_789delinsTC	XP_005272219.1:p.Phe263=
XM_006716932.2:c.1634_1635delinsTC	XP_006716995.1:p.Phe545=
XM_011518140.2:c.1838_1839delinsTC	XP_011516442.1:p.Phe613=
XM_011518141.2:c.1772_1773delinsTC	XP_011516443.1:p.Phe591=
XM_011518142.2:c.1676_1677delinsTC	XP_011516444.1:p.Phe559=
XM_011518143.2:c.1670_1671delinsTC	XP_011516445.1:p.Phe557=
XM_011518145.2:c.1529_1530delinsTC	XP_011516447.1:p.Phe510=
XM_017014205.2:c.788_789delinsTC	XP_016869694.1:p.Phe263=
XM_024447380.1:c.788_789delinsTC	XP_024303148.1:p.Phe263=
XM_024447381.1:c.1094_1095delinsTC	XP_024303149.1:p.Phe365=
XM_024447382.1:c.788_789delinsTC	XP_024303150.1:p.Phe263=
XR_001746160.2:n.2089_2090delinsTC
XR_001746162.2:n.2294_2295delinsTC
XR_001746164.1:n.2011_2012delinsTC
XR_001746166.2:n.2306_2307delinsTC
NM_001077365.2:c.1919_1920delinsTC MANE Select	NP_001070833.1:p.Phe640=
NM_001077366.2:c.1757_1758delinsTC	NP_001070834.1:p.Phe586=
NM_001136113.2:c.1919_1920delinsTC	NP_001129585.1:p.Phe640=
NM_001136114.2:c.1568_1569delinsTC	NP_001129586.1:p.Phe523=
NM_001353193.2:c.1985_1986delinsTC	NP_001340122.2:p.Phe662=
NM_001353194.2:c.1757_1758delinsTC	NP_001340123.1:p.Phe586=
NM_001353195.2:c.1568_1569delinsTC	NP_001340124.1:p.Phe523=
NM_001353196.2:c.1829_1830delinsTC	NP_001340125.1:p.Phe610=
NM_001353197.2:c.1823_1824delinsTC	NP_001340126.2:p.Phe608=
NM_001353198.2:c.1823_1824delinsTC	NP_001340127.2:p.Phe608=
NM_001353199.2:c.1634_1635delinsTC	NP_001340128.2:p.Phe545=
NM_001353200.2:c.1463_1464delinsTC	NP_001340129.1:p.Phe488=
NM_001374689.1:c.1907_1908delinsTC	NP_001361618.1:p.Phe636=
NM_001374690.1:c.1700_1701delinsTC	NP_001361619.1:p.Phe567=
NM_001374691.1:c.1568_1569delinsTC	NP_001361620.1:p.Phe523=
NM_001374692.1:c.1568_1569delinsTC	NP_001361621.1:p.Phe523=
NM_001374693.1:c.1568_1569delinsTC	NP_001361622.1:p.Phe523=
NM_001374695.1:c.1529_1530delinsTC	NP_001361624.1:p.Phe510=
NM_007171.4:c.1985_1986delinsTC	NP_009102.4:p.Phe662=
NR_148391.2:n.1953_1954delinsTC
NR_148392.2:n.2171_2172delinsTC
NR_148393.2:n.2092_2093delinsTC
NR_148394.2:n.1846_1847delinsTC
NR_148395.2:n.2244_2245delinsTC
NR_148396.2:n.1878_1879delinsTC
NR_148397.2:n.2003_2004delinsTC
NR_148398.2:n.1958_1959delinsTC
NR_148399.2:n.2484_2485delinsTC
NR_148400.2:n.2083_2084delinsTC