Canonical Allele Identifier: CA2575525340

Gene: PYGL

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50910083_50910084del , CM000676.2:g.50910083_50910084del	GRCh38
NC_000014.8:g.51376801_51376802del , CM000676.1:g.51376801_51376802del	GRCh37
NC_000014.7:g.50446551_50446552del	NCBI36
NG_012796.1:g.39448_39449del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.1989_1990del MANE Select	ENSP00000216392.7:p.Ser664ArgfsTer?
ENST00000216392.7:c.1989_1990del	ENSP00000216392.7:p.Ser664ArgfsTer?
ENST00000532107.2:n.162_163del
ENST00000532462.5:c.1989_1990del	ENSP00000431657.1:p.Ser664ArgfsTer?
ENST00000544180.6:c.1887_1888del	ENSP00000443787.1:p.Ser630ArgfsTer?
NM_001163940.1:c.1887_1888del	NP_001157412.1:p.Ser630ArgfsTer?
NM_002863.4:c.1989_1990del	NP_002854.3:p.Ser664ArgfsTer?
NM_002863.5:c.1989_1990del MANE Select	NP_002854.3:p.Ser664ArgfsTer?
NM_001163940.2:c.1887_1888del	NP_001157412.1:p.Ser630ArgfsTer?