Canonical Allele Identifier: CA2624828808
Gene: PYGL HGNC NCBI

Linked Data

gnomAD v4: 14-50905318-AC-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50905319del , CM000676.2:g.50905319del GRCh38
NC_000014.8:g.51372037del , CM000676.1:g.51372037del GRCh37
NC_000014.7:g.50441787del NCBI36
NG_012796.1:g.44212del

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.*73del MANE Select ENSP00000216392.7:n.*73del
ENST00000216392.7:c.*73del ENSP00000216392.7:n.*73del
ENST00000532462.5:c.2379+2952del ENSP00000431657.1:n.2379+2952del
ENST00000544180.6:c.*73del ENSP00000443787.1:n.*73del
NM_001163940.1:c.*73del NP_001157412.1:n.*73del
NM_002863.4:c.*73del NP_002854.3:n.*73del
NM_002863.5:c.*73del MANE Select NP_002854.3:n.*73del
NM_001163940.2:c.*73del NP_001157412.1:n.*73del
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Search 100 bp 3'