Canonical Allele Identifier: CA614275178

Gene: PYGL

Linked Data

• dbSNP Id: rs1334194577
• gnomAD v2: 14-51372279-AAAC-A
• gnomAD v4: 14-50905561-AAAC-A
• MyVariant Identifiers: chr14:g.51372280_51372282del (hg19) ; chr14:g.50905562_50905564del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50905566_50905568del , CM000676.2:g.50905566_50905568del	GRCh38
NC_000014.8:g.51372284_51372286del , CM000676.1:g.51372284_51372286del	GRCh37
NC_000014.7:g.50442034_50442036del	NCBI36
NG_012796.1:g.43967_43969del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.2380-8_2380-6del MANE Select	ENSP00000216392.7:n.2380-8_2380-6del
ENST00000216392.7:c.2380-8_2380-6del	ENSP00000216392.7:n.2380-8_2380-6del
ENST00000532462.5:c.2379+2707_2379+2709del	ENSP00000431657.1:n.2379+2707_2379+2709del
ENST00000544180.6:c.2278-8_2278-6del	ENSP00000443787.1:n.2278-8_2278-6del
NM_001163940.1:c.2278-8_2278-6del	NP_001157412.1:n.2278-8_2278-6del
NM_002863.4:c.2380-8_2380-6del	NP_002854.3:n.2380-8_2380-6del
NM_002863.5:c.2380-8_2380-6del MANE Select	NP_002854.3:n.2380-8_2380-6del
NM_001163940.2:c.2278-8_2278-6del	NP_001157412.1:n.2278-8_2278-6del