Canonical Allele Identifier: CA2614197230

Gene: PYGM

Linked Data

• gnomAD v4: 11-64753485-TAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64753490_64753491del , CM000673.2:g.64753490_64753491del	GRCh38
NC_000011.9:g.64520962_64520963del , CM000673.1:g.64520962_64520963del	GRCh37
NC_000011.8:g.64277538_64277539del	NCBI36
NG_013018.1:g.12229_12230del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.1403+32_1403+33del MANE Select	ENSP00000164139.3:n.1403+32_1403+33del
ENST00000164139.3:c.1403+32_1403+33del	ENSP00000164139.3:n.1403+32_1403+33del
ENST00000377432.7:c.1139+32_1139+33del	ENSP00000366650.3:n.1139+32_1139+33del
NM_001164716.1:c.1139+32_1139+33del	NP_001158188.1:n.1139+32_1139+33del
NM_005609.2:c.1403+32_1403+33del	NP_005600.1:n.1403+32_1403+33del
NM_005609.3:c.1403+32_1403+33del	NP_005600.1:n.1403+32_1403+33del
NM_005609.4:c.1403+32_1403+33del MANE Select	NP_005600.1:n.1403+32_1403+33del