Canonical Allele Identifier: CA1978919742

Gene: PYGM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64747477_64747478delinsAG , CM000673.2:g.64747477_64747478delinsAG	GRCh38
NC_000011.9:g.64514949_64514950delinsAG , CM000673.1:g.64514949_64514950delinsAG	GRCh37
NC_000011.8:g.64271525_64271526delinsAG	NCBI36
NG_007574.1:g.2979_2980delinsCT , LRG_100:g.2979_2980delinsCT
NG_013018.1:g.18238_18239delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.2178-120_2178-119delinsCT MANE Select	ENSP00000164139.3:n.2178-120_2178-119delinsCT
ENST00000164139.3:c.2178-120_2178-119delinsCT	ENSP00000164139.3:n.2178-120_2178-119delinsCT
ENST00000377432.7:c.1914-120_1914-119delinsCT	ENSP00000366650.3:n.1914-120_1914-119delinsCT
ENST00000483742.1:n.1411_1412delinsCT
NM_001164716.1:c.1914-120_1914-119delinsCT	NP_001158188.1:n.1914-120_1914-119delinsCT
NM_005609.2:c.2178-120_2178-119delinsCT	NP_005600.1:n.2178-120_2178-119delinsCT
NM_005609.3:c.2178-120_2178-119delinsCT	NP_005600.1:n.2178-120_2178-119delinsCT
NM_005609.4:c.2178-120_2178-119delinsCT MANE Select	NP_005600.1:n.2178-120_2178-119delinsCT