Canonical Allele Identifier: CA2624827291

Gene: PYGL

Linked Data

• gnomAD v4: 14-50910164-GAAGCATTTATT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50910168_50910178del , CM000676.2:g.50910168_50910178del	GRCh38
NC_000014.8:g.51376886_51376896del , CM000676.1:g.51376886_51376896del	GRCh37
NC_000014.7:g.50446636_50446646del	NCBI36
NG_012796.1:g.39356_39366del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.1970-73_1970-63del MANE Select	ENSP00000216392.7:n.1970-73_1970-63del
ENST00000216392.7:c.1970-73_1970-63del	ENSP00000216392.7:n.1970-73_1970-63del
ENST00000532107.2:n.143-73_143-63del
ENST00000532462.5:c.1970-73_1970-63del	ENSP00000431657.1:n.1970-73_1970-63del
ENST00000544180.6:c.1868-73_1868-63del	ENSP00000443787.1:n.1868-73_1868-63del
NM_001163940.1:c.1868-73_1868-63del	NP_001157412.1:n.1868-73_1868-63del
NM_002863.4:c.1970-73_1970-63del	NP_002854.3:n.1970-73_1970-63del
NM_002863.5:c.1970-73_1970-63del MANE Select	NP_002854.3:n.1970-73_1970-63del
NM_001163940.2:c.1868-73_1868-63del	NP_001157412.1:n.1868-73_1868-63del