Canonical Allele Identifier: CA2741376671

Gene: PYGL

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50944440_50944443del , CM000676.2:g.50944440_50944443del	GRCh38
NC_000014.8:g.51411158_51411161del , CM000676.1:g.51411158_51411161del	GRCh37
NC_000014.7:g.50480908_50480911del	NCBI36
NG_012796.1:g.5088_5091del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.-40_-37del MANE Select	ENSP00000216392.7:n.-40_-37del
ENST00000216392.7:c.-40_-37del	ENSP00000216392.7:n.-40_-37del
ENST00000530336.2:n.28_31del
ENST00000532462.5:c.-40_-37del	ENSP00000431657.1:n.-40_-37del
ENST00000544180.6:c.-40_-37del	ENSP00000443787.1:n.-40_-37del
NM_001163940.1:c.-40_-37del	NP_001157412.1:n.-40_-37del
NM_002863.4:c.-40_-37del	NP_002854.3:n.-40_-37del
NM_002863.5:c.-40_-37del MANE Select	NP_002854.3:n.-40_-37del
NM_001163940.2:c.-40_-37del	NP_001157412.1:n.-40_-37del