Canonical Allele Identifier: CA938865060

Gene: PYGM

Linked Data

• dbSNP Id: rs2058370232
• gnomAD v3: 11-64753441-AGGG-A
• gnomAD v4: 11-64753441-AGGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64753442_64753444del , CM000673.2:g.64753442_64753444del	GRCh38
NC_000011.9:g.64520914_64520916del , CM000673.1:g.64520914_64520916del	GRCh37
NC_000011.8:g.64277490_64277492del	NCBI36
NG_013018.1:g.12272_12274del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.1403+75_1403+77del MANE Select	ENSP00000164139.3:n.1403+75_1403+77del
ENST00000164139.3:c.1403+75_1403+77del	ENSP00000164139.3:n.1403+75_1403+77del
ENST00000377432.7:c.1139+75_1139+77del	ENSP00000366650.3:n.1139+75_1139+77del
NM_001164716.1:c.1139+75_1139+77del	NP_001158188.1:n.1139+75_1139+77del
NM_005609.2:c.1403+75_1403+77del	NP_005600.1:n.1403+75_1403+77del
NM_005609.3:c.1403+75_1403+77del	NP_005600.1:n.1403+75_1403+77del
NM_005609.4:c.1403+75_1403+77del MANE Select	NP_005600.1:n.1403+75_1403+77del