Canonical Allele Identifier: CA963078945

Gene: PYGL

Linked Data

• gnomAD v3: 14-50944465-T-TGGGCTGCC
• gnomAD v4: 14-50944465-T-TGGGCTGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50944470_50944477dup , CM000676.2:g.50944470_50944477dup	GRCh38
NC_000014.8:g.51411188_51411195dup , CM000676.1:g.51411188_51411195dup	GRCh37
NC_000014.7:g.50480938_50480945dup	NCBI36
NG_012796.1:g.5058_5065dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.-70_-63dup MANE Select	ENSP00000216392.7:n.-70_-63dup
ENST00000216392.7:c.-70_-63dup	ENSP00000216392.7:n.-70_-63dup
ENST00000544180.6:c.-70_-63dup	ENSP00000443787.1:n.-70_-63dup
NM_001163940.1:c.-70_-63dup	NP_001157412.1:n.-70_-63dup
NM_002863.4:c.-70_-63dup	NP_002854.3:n.-70_-63dup
NM_002863.5:c.-70_-63dup MANE Select	NP_002854.3:n.-70_-63dup
NM_001163940.2:c.-70_-63dup	NP_001157412.1:n.-70_-63dup