Canonical Allele Identifier: CA2575525304

Gene: PYGL

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50915780del , CM000676.2:g.50915780del	GRCh38
NC_000014.8:g.51382498del , CM000676.1:g.51382498del	GRCh37
NC_000014.7:g.50452248del	NCBI36
NG_012796.1:g.33752del

Transcript Alleles

HGVS	Amino-acid change
ENST00000216392.8:c.1239+46del MANE Select	ENSP00000216392.7:n.1239+46del
ENST00000216392.7:c.1239+46del	ENSP00000216392.7:n.1239+46del
ENST00000528757.2:n.116+46del
ENST00000532462.5:c.1239+46del	ENSP00000431657.1:n.1239+46del
ENST00000544180.6:c.1137+46del	ENSP00000443787.1:n.1137+46del
NM_001163940.1:c.1137+46del	NP_001157412.1:n.1137+46del
NM_002863.4:c.1239+46del	NP_002854.3:n.1239+46del
NM_002863.5:c.1239+46del MANE Select	NP_002854.3:n.1239+46del
NM_001163940.2:c.1137+46del	NP_001157412.1:n.1137+46del