Canonical Allele Identifier: CA2839608665

Gene: PYGL

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50937650dup , CM000676.2:g.50937650dup	GRCh38
NC_000014.8:g.51404368dup , CM000676.1:g.51404368dup	GRCh37
NC_000014.7:g.50474118dup	NCBI36
NG_012796.1:g.11883dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.345+88dup MANE Select	ENSP00000216392.7:n.345+88dup
ENST00000216392.7:c.345+88dup	ENSP00000216392.7:n.345+88dup
ENST00000530336.2:n.412+88dup
ENST00000532462.5:c.345+88dup	ENSP00000431657.1:n.345+88dup
ENST00000544180.6:c.244-2463dup	ENSP00000443787.1:n.244-2463dup
NM_001163940.1:c.244-2463dup	NP_001157412.1:n.244-2463dup
NM_002863.4:c.345+88dup	NP_002854.3:n.345+88dup
NM_002863.5:c.345+88dup MANE Select	NP_002854.3:n.345+88dup
NM_001163940.2:c.244-2463dup	NP_001157412.1:n.244-2463dup