Canonical Allele Identifier: CA1978919737

Gene: PYGM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64747472_64747473delinsTC , CM000673.2:g.64747472_64747473delinsTC	GRCh38
NC_000011.9:g.64514944_64514945delinsTC , CM000673.1:g.64514944_64514945delinsTC	GRCh37
NC_000011.8:g.64271520_64271521delinsTC	NCBI36
NG_007574.1:g.2984_2985delinsGA , LRG_100:g.2984_2985delinsGA
NG_013018.1:g.18243_18244delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.2178-115_2178-114delinsGA MANE Select	ENSP00000164139.3:n.2178-115_2178-114delinsGA
ENST00000164139.3:c.2178-115_2178-114delinsGA	ENSP00000164139.3:n.2178-115_2178-114delinsGA
ENST00000377432.7:c.1914-115_1914-114delinsGA	ENSP00000366650.3:n.1914-115_1914-114delinsGA
ENST00000483742.1:n.1416_1417delinsGA
NM_001164716.1:c.1914-115_1914-114delinsGA	NP_001158188.1:n.1914-115_1914-114delinsGA
NM_005609.2:c.2178-115_2178-114delinsGA	NP_005600.1:n.2178-115_2178-114delinsGA
NM_005609.3:c.2178-115_2178-114delinsGA	NP_005600.1:n.2178-115_2178-114delinsGA
NM_005609.4:c.2178-115_2178-114delinsGA MANE Select	NP_005600.1:n.2178-115_2178-114delinsGA