Canonical Allele Identifier: CA2614197043

Gene: PYGM

Linked Data

• gnomAD v4: 11-64753424-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64753429_64753430del , CM000673.2:g.64753429_64753430del	GRCh38
NC_000011.9:g.64520901_64520902del , CM000673.1:g.64520901_64520902del	GRCh37
NC_000011.8:g.64277477_64277478del	NCBI36
NG_013018.1:g.12290_12291del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.1403+93_1403+94del MANE Select	ENSP00000164139.3:n.1403+93_1403+94del
ENST00000164139.3:c.1403+93_1403+94del	ENSP00000164139.3:n.1403+93_1403+94del
ENST00000377432.7:c.1139+93_1139+94del	ENSP00000366650.3:n.1139+93_1139+94del
NM_001164716.1:c.1139+93_1139+94del	NP_001158188.1:n.1139+93_1139+94del
NM_005609.2:c.1403+93_1403+94del	NP_005600.1:n.1403+93_1403+94del
NM_005609.3:c.1403+93_1403+94del	NP_005600.1:n.1403+93_1403+94del
NM_005609.4:c.1403+93_1403+94del MANE Select	NP_005600.1:n.1403+93_1403+94del