Canonical Allele Identifier: CA2624827354

Gene: PYGL

Linked Data

• gnomAD v4: 14-50910249-TCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50910253_50910254del , CM000676.2:g.50910253_50910254del	GRCh38
NC_000014.8:g.51376971_51376972del , CM000676.1:g.51376971_51376972del	GRCh37
NC_000014.7:g.50446721_50446722del	NCBI36
NG_012796.1:g.39280_39281del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.1970-149_1970-148del MANE Select	ENSP00000216392.7:n.1970-149_1970-148del
ENST00000216392.7:c.1970-149_1970-148del	ENSP00000216392.7:n.1970-149_1970-148del
ENST00000532107.2:n.143-149_143-148del
ENST00000532462.5:c.1970-149_1970-148del	ENSP00000431657.1:n.1970-149_1970-148del
ENST00000544180.6:c.1868-149_1868-148del	ENSP00000443787.1:n.1868-149_1868-148del
NM_001163940.1:c.1868-149_1868-148del	NP_001157412.1:n.1868-149_1868-148del
NM_002863.4:c.1970-149_1970-148del	NP_002854.3:n.1970-149_1970-148del
NM_002863.5:c.1970-149_1970-148del MANE Select	NP_002854.3:n.1970-149_1970-148del
NM_001163940.2:c.1868-149_1868-148del	NP_001157412.1:n.1868-149_1868-148del