Canonical Allele Identifier: CA2592932466

Gene: PYGL

Linked Data

• gnomAD v3: 14-50910115-T-TA
• gnomAD v4: 14-50910115-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50910117dup , CM000676.2:g.50910117dup	GRCh38
NC_000014.8:g.51376835dup , CM000676.1:g.51376835dup	GRCh37
NC_000014.7:g.50446585dup	NCBI36
NG_012796.1:g.39415dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.1970-14dup MANE Select	ENSP00000216392.7:n.1970-14dup
ENST00000216392.7:c.1970-14dup	ENSP00000216392.7:n.1970-14dup
ENST00000532107.2:n.143-14dup
ENST00000532462.5:c.1970-14dup	ENSP00000431657.1:n.1970-14dup
ENST00000544180.6:c.1868-14dup	ENSP00000443787.1:n.1868-14dup
NM_001163940.1:c.1868-14dup	NP_001157412.1:n.1868-14dup
NM_002863.4:c.1970-14dup	NP_002854.3:n.1970-14dup
NM_002863.5:c.1970-14dup MANE Select	NP_002854.3:n.1970-14dup
NM_001163940.2:c.1868-14dup	NP_001157412.1:n.1868-14dup