Canonical Allele Identifier: CA1978919672

Gene: PYGM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64747443_64747444delinsAG , CM000673.2:g.64747443_64747444delinsAG	GRCh38
NC_000011.9:g.64514915_64514916delinsAG , CM000673.1:g.64514915_64514916delinsAG	GRCh37
NC_000011.8:g.64271491_64271492delinsAG	NCBI36
NG_007574.1:g.3013_3014delinsCT , LRG_100:g.3013_3014delinsCT
NG_013018.1:g.18272_18273delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.2178-86_2178-85delinsCT MANE Select	ENSP00000164139.3:n.2178-86_2178-85delinsCT
ENST00000164139.3:c.2178-86_2178-85delinsCT	ENSP00000164139.3:n.2178-86_2178-85delinsCT
ENST00000377432.7:c.1914-86_1914-85delinsCT	ENSP00000366650.3:n.1914-86_1914-85delinsCT
ENST00000483742.1:n.1445_1446delinsCT
NM_001164716.1:c.1914-86_1914-85delinsCT	NP_001158188.1:n.1914-86_1914-85delinsCT
NM_005609.2:c.2178-86_2178-85delinsCT	NP_005600.1:n.2178-86_2178-85delinsCT
NM_005609.3:c.2178-86_2178-85delinsCT	NP_005600.1:n.2178-86_2178-85delinsCT
NM_005609.4:c.2178-86_2178-85delinsCT MANE Select	NP_005600.1:n.2178-86_2178-85delinsCT