Canonical Allele Identifier: CA2614193200

Gene: PYGM

Linked Data

• gnomAD v4: 11-64751694-CCCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64751696_64751698del , CM000673.2:g.64751696_64751698del	GRCh38
NC_000011.9:g.64519168_64519170del , CM000673.1:g.64519168_64519170del	GRCh37
NC_000011.8:g.64275744_64275746del	NCBI36
NG_013018.1:g.14019_14021del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.1769-42_1769-40del MANE Select	ENSP00000164139.3:n.1769-42_1769-40del
ENST00000164139.3:c.1769-42_1769-40del	ENSP00000164139.3:n.1769-42_1769-40del
ENST00000377432.7:c.1505-42_1505-40del	ENSP00000366650.3:n.1505-42_1505-40del
ENST00000462303.1:n.93-42_93-40del
NM_001164716.1:c.1505-42_1505-40del	NP_001158188.1:n.1505-42_1505-40del
NM_005609.2:c.1769-42_1769-40del	NP_005600.1:n.1769-42_1769-40del
NM_005609.3:c.1769-42_1769-40del	NP_005600.1:n.1769-42_1769-40del
NM_005609.4:c.1769-42_1769-40del MANE Select	NP_005600.1:n.1769-42_1769-40del