Canonical Allele Identifier: CA2624823584

Gene: PYGL

Linked Data

• gnomAD v4: 14-50905518-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50905519dup , CM000676.2:g.50905519dup	GRCh38
NC_000014.8:g.51372237dup , CM000676.1:g.51372237dup	GRCh37
NC_000014.7:g.50441987dup	NCBI36
NG_012796.1:g.44012dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.2417dup MANE Select	ENSP00000216392.7:p.Ala807SerfsTer9
ENST00000216392.7:c.2417dup	ENSP00000216392.7:p.Ala807SerfsTer9
ENST00000532462.5:c.2379+2752dup	ENSP00000431657.1:n.2379+2752dup
ENST00000544180.6:c.2315dup	ENSP00000443787.1:p.Ala773SerfsTer9
NM_001163940.1:c.2315dup	NP_001157412.1:p.Ala773SerfsTer9
NM_002863.4:c.2417dup	NP_002854.3:p.Ala807SerfsTer9
NM_002863.5:c.2417dup MANE Select	NP_002854.3:p.Ala807SerfsTer9
NM_001163940.2:c.2315dup	NP_001157412.1:p.Ala773SerfsTer9