Canonical Allele Identifier: CA2624828822

Gene: PYGL

Linked Data

• gnomAD v4: 14-50905332-ATGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50905336_50905338del , CM000676.2:g.50905336_50905338del	GRCh38
NC_000014.8:g.51372054_51372056del , CM000676.1:g.51372054_51372056del	GRCh37
NC_000014.7:g.50441804_50441806del	NCBI36
NG_012796.1:g.44196_44198del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.*57_*59del MANE Select	ENSP00000216392.7:n.*57_*59del
ENST00000216392.7:c.*57_*59del	ENSP00000216392.7:n.*57_*59del
ENST00000532462.5:c.2379+2936_2379+2938del	ENSP00000431657.1:n.2379+2936_2379+2938del
ENST00000544180.6:c.*57_*59del	ENSP00000443787.1:n.*57_*59del
NM_001163940.1:c.*57_*59del	NP_001157412.1:n.*57_*59del
NM_002863.4:c.*57_*59del	NP_002854.3:n.*57_*59del
NM_002863.5:c.*57_*59del MANE Select	NP_002854.3:n.*57_*59del
NM_001163940.2:c.*57_*59del	NP_001157412.1:n.*57_*59del