Canonical Allele Identifier: CA2624828863

Gene: PYGL

Linked Data

• gnomAD v4: 14-50905374-TAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50905378_50905379del , CM000676.2:g.50905378_50905379del	GRCh38
NC_000014.8:g.51372096_51372097del , CM000676.1:g.51372096_51372097del	GRCh37
NC_000014.7:g.50441846_50441847del	NCBI36
NG_012796.1:g.44155_44156del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.*16_*17del MANE Select	ENSP00000216392.7:n.*16_*17del
ENST00000216392.7:c.*16_*17del	ENSP00000216392.7:n.*16_*17del
ENST00000532462.5:c.2379+2895_2379+2896del	ENSP00000431657.1:n.2379+2895_2379+2896del
ENST00000544180.6:c.*16_*17del	ENSP00000443787.1:n.*16_*17del
NM_001163940.1:c.*16_*17del	NP_001157412.1:n.*16_*17del
NM_002863.4:c.*16_*17del	NP_002854.3:n.*16_*17del
NM_002863.5:c.*16_*17del MANE Select	NP_002854.3:n.*16_*17del
NM_001163940.2:c.*16_*17del	NP_001157412.1:n.*16_*17del