Canonical Allele Identifier: CA2148330201

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286814_77286815delinsCG , CM000676.2:g.77286814_77286815delinsCG	GRCh38
NC_000014.8:g.77753157_77753158delinsCG , CM000676.1:g.77753157_77753158delinsCG	GRCh37
NC_000014.7:g.76822910_76822911delinsCG	NCBI36
NG_008897.1:g.39068_39069delinsCG , LRG_844:g.39068_39069delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.802_803delinsCG	ENSP00000451967.2:p.Arg268=
ENST00000682247.1:c.1261_1262delinsCG	ENSP00000507213.1:p.Arg421=
ENST00000682382.1:c.833_834delinsCG
ENST00000682395.1:n.1439_1440delinsCG
ENST00000682459.1:n.964_965delinsCG
ENST00000682467.1:c.1261_1262delinsCG	ENSP00000508062.1:p.Arg421=
ENST00000682706.1:n.38_39delinsCG
ENST00000682795.1:c.1261_1262delinsCG	ENSP00000507574.1:p.Arg421=
ENST00000682895.1:n.977_978delinsCG
ENST00000682955.1:n.549_550delinsCG
ENST00000683188.1:c.1236_1237delinsCG
ENST00000683328.1:c.254_255delinsCG	ENSP00000508096.1:n.254_255delinsCG
ENST00000683380.1:n.925_926delinsCG
ENST00000683828.1:c.970_971delinsCG
ENST00000684259.1:n.1112_1113delinsCG
ENST00000684444.1:c.8_9delinsCG
ENST00000684549.1:n.812_813delinsCG
ENST00000261534.9:c.1261_1262delinsCG MANE Select	ENSP00000261534.4:p.Arg421=
ENST00000261534.8:c.1261_1262delinsCG	ENSP00000261534.4:p.Arg421=
ENST00000452340.7:n.1284_1285delinsCG
ENST00000553880.5:n.132_133delinsCG
ENST00000554767.5:n.2047_2048delinsCG
ENST00000554884.5:n.253_254delinsCG
ENST00000556404.1:n.395_396delinsCG
ENST00000556851.1:n.297_298delinsCG
ENST00000557675.5:n.351_352delinsCG
NM_013382.5:c.1261_1262delinsCG , LRG_844t1:c.1261_1262delinsCG	NP_037514.2:p.Arg421=
XM_011536675.1:c.1261_1262delinsCG	XP_011534977.1:p.Arg421=
XM_011536676.1:c.928_929delinsCG	XP_011534978.1:p.Arg310=
XM_011536677.1:c.802_803delinsCG	XP_011534979.1:p.Arg268=
XM_011536678.1:c.1261_1262delinsCG	XP_011534980.1:p.Arg421=
XM_011536679.1:c.355_356delinsCG	XP_011534981.1:p.Arg119=
XR_943416.1:n.1464_1465delinsCG
XM_011536675.2:c.1261_1262delinsCG	XP_011534977.1:p.Arg421=
XM_011536676.2:c.928_929delinsCG	XP_011534978.1:p.Arg310=
XM_011536677.3:c.802_803delinsCG	XP_011534979.1:p.Arg268=
XR_001750279.1:n.1461_1462delinsCG
XR_001750282.1:n.1914_1915delinsCG
XR_943416.3:n.1462_1463delinsCG
NM_013382.6:c.1261_1262delinsCG	NP_037514.2:p.Arg421=
NM_013382.7:c.1261_1262delinsCG MANE Select	NP_037514.2:p.Arg421=