Canonical Allele Identifier: CA2614196834

Gene: PYGM

Linked Data

• gnomAD v4: 11-64753314-TGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64753318_64753319del , CM000673.2:g.64753318_64753319del	GRCh38
NC_000011.9:g.64520790_64520791del , CM000673.1:g.64520790_64520791del	GRCh37
NC_000011.8:g.64277366_64277367del	NCBI36
NG_013018.1:g.12400_12401del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.1404-129_1404-128del MANE Select	ENSP00000164139.3:n.1404-129_1404-128del
ENST00000164139.3:c.1404-129_1404-128del	ENSP00000164139.3:n.1404-129_1404-128del
ENST00000377432.7:c.1140-129_1140-128del	ENSP00000366650.3:n.1140-129_1140-128del
NM_001164716.1:c.1140-129_1140-128del	NP_001158188.1:n.1140-129_1140-128del
NM_005609.2:c.1404-129_1404-128del	NP_005600.1:n.1404-129_1404-128del
NM_005609.3:c.1404-129_1404-128del	NP_005600.1:n.1404-129_1404-128del
NM_005609.4:c.1404-129_1404-128del MANE Select	NP_005600.1:n.1404-129_1404-128del