Canonical Allele Identifier: CA706628607

Gene: PYGL

Linked Data

• dbSNP Id: rs1460947493
• gnomAD v4: 14-50937628-A-AT
• MyVariant Identifiers: chr14:g.51404346_51404347insT (hg19) ; chr14:g.50937628_50937629insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50937633dup , CM000676.2:g.50937633dup	GRCh38
NC_000014.8:g.51404351dup , CM000676.1:g.51404351dup	GRCh37
NC_000014.7:g.50474101dup	NCBI36
NG_012796.1:g.11902dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.345+107dup MANE Select	ENSP00000216392.7:n.345+107dup
ENST00000216392.7:c.345+107dup	ENSP00000216392.7:n.345+107dup
ENST00000530336.2:n.412+107dup
ENST00000532462.5:c.345+107dup	ENSP00000431657.1:n.345+107dup
ENST00000544180.6:c.244-2444dup	ENSP00000443787.1:n.244-2444dup
NM_001163940.1:c.244-2444dup	NP_001157412.1:n.244-2444dup
NM_002863.4:c.345+107dup	NP_002854.3:n.345+107dup
NM_002863.5:c.345+107dup MANE Select	NP_002854.3:n.345+107dup
NM_001163940.2:c.244-2444dup	NP_001157412.1:n.244-2444dup