Canonical Allele Identifier: CA963078753
Gene: PYGL HGNC NCBI

Linked Data

dbSNP Id: rs2050729033
gnomAD v3: 14-50944216-TG-T
gnomAD v4: 14-50944216-TG-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50944218del , CM000676.2:g.50944218del GRCh38
NC_000014.8:g.51410936del , CM000676.1:g.51410936del GRCh37
NC_000014.7:g.50480686del NCBI36
NG_012796.1:g.5314del

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.187del MANE Select ENSP00000216392.7:p.His63ThrfsTer?
ENST00000216392.7:c.187del ENSP00000216392.7:p.His63ThrfsTer?
ENST00000530336.2:n.254del
ENST00000532462.5:c.187del ENSP00000431657.1:p.His63ThrfsTer?
ENST00000544180.6:c.187del ENSP00000443787.1:p.His63ThrfsTer24
NM_001163940.1:c.187del NP_001157412.1:p.His63ThrfsTer24
NM_002863.4:c.187del NP_002854.3:p.His63ThrfsTer?
NM_002863.5:c.187del MANE Select NP_002854.3:p.His63ThrfsTer?
NM_001163940.2:c.187del NP_001157412.1:p.His63ThrfsTer24
Search 100 bp 5'
Search 100 bp 3'