Canonical Allele Identifier: CA2624828830
Gene: PYGL HGNC NCBI

Linked Data

gnomAD v4: 14-50905338-TA-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50905343del , CM000676.2:g.50905343del GRCh38
NC_000014.8:g.51372061del , CM000676.1:g.51372061del GRCh37
NC_000014.7:g.50441811del NCBI36
NG_012796.1:g.44192del

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.*53del MANE Select ENSP00000216392.7:n.*53del
ENST00000216392.7:c.*53del ENSP00000216392.7:n.*53del
ENST00000532462.5:c.2379+2932del ENSP00000431657.1:n.2379+2932del
ENST00000544180.6:c.*53del ENSP00000443787.1:n.*53del
NM_001163940.1:c.*53del NP_001157412.1:n.*53del
NM_002863.4:c.*53del NP_002854.3:n.*53del
NM_002863.5:c.*53del MANE Select NP_002854.3:n.*53del
NM_001163940.2:c.*53del NP_001157412.1:n.*53del
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