Canonical Allele Identifier: CA2148315583

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278867_77278868delinsAC , CM000676.2:g.77278867_77278868delinsAC	GRCh38
NC_000014.8:g.77745210_77745211delinsAC , CM000676.1:g.77745210_77745211delinsAC	GRCh37
NC_000014.7:g.76814963_76814964delinsAC	NCBI36
NG_008897.1:g.47015_47016delinsGT , LRG_844:g.47015_47016delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.818_819delinsGT
ENST00000556394.2:c.1434_1435delinsGT	ENSP00000451967.2:p.Gly478=
ENST00000682128.1:c.194_195delinsGT	ENSP00000506976.1:n.194_195delinsGT
ENST00000682247.1:c.1892-10_1892-9delinsGT	ENSP00000507213.1:n.1892-10_1892-9delinsGT
ENST00000682395.1:n.2357_2358delinsGT
ENST00000682459.1:n.1596_1597delinsGT
ENST00000682467.1:c.1892-360_1892-359delinsGT	ENSP00000508062.1:n.1892-360_1892-359delinsGT
ENST00000682615.1:n.247_248delinsGT
ENST00000682795.1:c.2040_2041delinsGT	ENSP00000507574.1:p.Arg680=
ENST00000682895.1:n.1609_1610delinsGT
ENST00000682955.1:n.1467_1468delinsGT
ENST00000683095.1:c.299_300delinsGT	ENSP00000508040.1:n.299_300delinsGT
ENST00000683188.1:c.2154_2155delinsGT
ENST00000683380.1:n.1557_1558delinsGT
ENST00000683828.1:c.1602_1603delinsGT
ENST00000683907.1:c.158_159delinsGT	ENSP00000507754.1:p.Gly53=
ENST00000684172.1:c.269_270delinsGT	ENSP00000508391.1:n.269_270delinsGT
ENST00000684259.1:n.3660_3661delinsGT
ENST00000684538.1:n.1272_1273delinsGT
ENST00000684549.1:n.1444_1445delinsGT
ENST00000261534.9:c.1893_1894delinsGT MANE Select	ENSP00000261534.4:p.Gly631=
ENST00000261534.8:c.1893_1894delinsGT	ENSP00000261534.4:p.Gly631=
ENST00000452340.7:n.2869_2870delinsGT
ENST00000554767.5:n.2679_2680delinsGT
ENST00000555134.1:n.818_819delinsGT
ENST00000555710.1:c.254_255delinsGT	ENSP00000451730.1:n.254_255delinsGT
ENST00000556171.1:c.485_486delinsGT
ENST00000556394.1:c.88-360_88-359delinsGT
ENST00000556446.1:n.194_195delinsGT
ENST00000602717.5:c.108_109delinsGT	ENSP00000487704.1:p.Gly36=
NM_013382.5:c.1893_1894delinsGT , LRG_844t1:c.1893_1894delinsGT	NP_037514.2:p.Gly631=
XM_011536675.1:c.2082_2083delinsGT	XP_011534977.1:p.Arg694=
XM_011536676.1:c.1749_1750delinsGT	XP_011534978.1:p.Arg583=
XM_011536677.1:c.1623_1624delinsGT	XP_011534979.1:p.Arg541=
XM_011536679.1:c.1176_1177delinsGT	XP_011534981.1:p.Arg392=
XR_943416.1:n.2146_2147delinsGT
XM_011536675.2:c.2082_2083delinsGT	XP_011534977.1:p.Arg694=
XM_011536676.2:c.1749_1750delinsGT	XP_011534978.1:p.Arg583=
XM_011536677.3:c.1623_1624delinsGT	XP_011534979.1:p.Arg541=
XR_001750279.1:n.2179_2180delinsGT
XR_001750282.1:n.2832_2833delinsGT
XR_943416.3:n.2144_2145delinsGT
NM_013382.6:c.1893_1894delinsGT	NP_037514.2:p.Gly631=
NM_013382.7:c.1893_1894delinsGT MANE Select	NP_037514.2:p.Gly631=