Canonical Allele Identifier: CA6079873

Gene: PYGM

Linked Data

• dbSNP Id: rs750203293
• ExAC: 11:64520705 TGAA / T
• gnomAD v2: 11-64520705-TGAA-T
• gnomAD v4: 11-64753233-TGAA-T
• MyVariant Identifiers: chr11:g.64520706_64520708del (hg19) ; chr11:g.64753234_64753236del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64753235_64753237del , CM000673.2:g.64753235_64753237del	GRCh38
NC_000011.9:g.64520707_64520709del , CM000673.1:g.64520707_64520709del	GRCh37
NC_000011.8:g.64277283_64277285del	NCBI36
NG_013018.1:g.12480_12482del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.1404-49_1404-47del MANE Select	ENSP00000164139.3:n.1404-49_1404-47del
ENST00000164139.3:c.1404-49_1404-47del	ENSP00000164139.3:n.1404-49_1404-47del
ENST00000377432.7:c.1140-49_1140-47del	ENSP00000366650.3:n.1140-49_1140-47del
NM_001164716.1:c.1140-49_1140-47del	NP_001158188.1:n.1140-49_1140-47del
NM_005609.2:c.1404-49_1404-47del	NP_005600.1:n.1404-49_1404-47del
NM_005609.3:c.1404-49_1404-47del	NP_005600.1:n.1404-49_1404-47del
NM_005609.4:c.1404-49_1404-47del MANE Select	NP_005600.1:n.1404-49_1404-47del