Canonical Allele Identifier: CA2136411128

Gene: PYGL

Linked Data

• dbSNP Id: rs2050320867

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50905381_50905382del , CM000676.2:g.50905381_50905382del	GRCh38
NC_000014.8:g.51372099_51372100del , CM000676.1:g.51372099_51372100del	GRCh37
NC_000014.7:g.50441849_50441850del	NCBI36
NG_012796.1:g.44149_44150del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.*10_*11del MANE Select	ENSP00000216392.7:n.*10_*11del
ENST00000216392.7:c.*10_*11del	ENSP00000216392.7:n.*10_*11del
ENST00000532462.5:c.2379+2889_2379+2890del	ENSP00000431657.1:n.2379+2889_2379+2890del
ENST00000544180.6:c.*10_*11del	ENSP00000443787.1:n.*10_*11del
NM_001163940.1:c.*10_*11del	NP_001157412.1:n.*10_*11del
NM_002863.4:c.*10_*11del	NP_002854.3:n.*10_*11del
NM_002863.5:c.*10_*11del MANE Select	NP_002854.3:n.*10_*11del
NM_001163940.2:c.*10_*11del	NP_001157412.1:n.*10_*11del