Canonical Allele Identifier: CA7183894

Gene: PYGL

Linked Data

• dbSNP Id: rs745596653
• ExAC: 14:51410937 TCG / T
• gnomAD v2: 14-51410937-TCG-T
• gnomAD v4: 14-50944219-TCG-T
• MyVariant Identifiers: chr14:g.51410938_51410939del (hg19) ; chr14:g.50944220_50944221del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50944223_50944224del , CM000676.2:g.50944223_50944224del	GRCh38
NC_000014.8:g.51410941_51410942del , CM000676.1:g.51410941_51410942del	GRCh37
NC_000014.7:g.50480691_50480692del	NCBI36
NG_012796.1:g.5310_5311del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.183_184del MANE Select	ENSP00000216392.7:p.Asp62ProfsTer?
ENST00000216392.7:c.183_184del	ENSP00000216392.7:p.Asp62ProfsTer?
ENST00000530336.2:n.250_251del
ENST00000532462.5:c.183_184del	ENSP00000431657.1:p.Asp62ProfsTer?
ENST00000544180.6:c.183_184del	ENSP00000443787.1:p.Asp62ProfsTer?
NM_001163940.1:c.183_184del	NP_001157412.1:p.Asp62ProfsTer?
NM_002863.4:c.183_184del	NP_002854.3:p.Asp62ProfsTer?
NM_002863.5:c.183_184del MANE Select	NP_002854.3:p.Asp62ProfsTer?
NM_001163940.2:c.183_184del	NP_001157412.1:p.Asp62ProfsTer?