Canonical Allele Identifier: CA2575525095

Gene: PYGL

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50905306_50905308del , CM000676.2:g.50905306_50905308del	GRCh38
NC_000014.8:g.51372024_51372026del , CM000676.1:g.51372024_51372026del	GRCh37
NC_000014.7:g.50441774_50441776del	NCBI36
NG_012796.1:g.44227_44229del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.*88_*90del MANE Select	ENSP00000216392.7:n.*88_*90del
ENST00000216392.7:c.*88_*90del	ENSP00000216392.7:n.*88_*90del
ENST00000532462.5:c.2379+2967_2379+2969del	ENSP00000431657.1:n.2379+2967_2379+2969del
ENST00000544180.6:c.*88_*90del	ENSP00000443787.1:n.*88_*90del
NM_001163940.1:c.*88_*90del	NP_001157412.1:n.*88_*90del
NM_002863.4:c.*88_*90del	NP_002854.3:n.*88_*90del
NM_002863.5:c.*88_*90del MANE Select	NP_002854.3:n.*88_*90del
NM_001163940.2:c.*88_*90del	NP_001157412.1:n.*88_*90del