Canonical Allele Identifier: CA2136414922

Gene: PYGL

Linked Data

• dbSNP Id: rs2050375903
• gnomAD v4: 14-50909961-GCTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50909967_50909969del , CM000676.2:g.50909967_50909969del	GRCh38
NC_000014.8:g.51376685_51376687del , CM000676.1:g.51376685_51376687del	GRCh37
NC_000014.7:g.50446435_50446437del	NCBI36
NG_012796.1:g.39567_39569del

Transcript Alleles

HGVS	Amino-acid change
ENST00000216392.8:c.2108_2110del MANE Select	ENSP00000216392.7:p.Glu703del
ENST00000216392.7:c.2108_2110del	ENSP00000216392.7:p.Glu703del
ENST00000532107.2:n.281_283del
ENST00000532462.5:c.2108_2110del	ENSP00000431657.1:p.Glu703del
ENST00000544180.6:c.2006_2008del	ENSP00000443787.1:p.Glu669del
NM_001163940.1:c.2006_2008del	NP_001157412.1:p.Glu669del
NM_002863.4:c.2108_2110del	NP_002854.3:p.Glu703del
NM_002863.5:c.2108_2110del MANE Select	NP_002854.3:p.Glu703del
NM_001163940.2:c.2006_2008del	NP_001157412.1:p.Glu669del