Canonical Allele Identifier: CA2624830017
Gene: PYGL HGNC NCBI

Linked Data

gnomAD v4: 14-50944427-CG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50944430del , CM000676.2:g.50944430del GRCh38
NC_000014.8:g.51411148del , CM000676.1:g.51411148del GRCh37
NC_000014.7:g.50480898del NCBI36
NG_012796.1:g.5103del

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.-25del MANE Select ENSP00000216392.7:n.-25del
ENST00000216392.7:c.-25del ENSP00000216392.7:n.-25del
ENST00000530336.2:n.43del
ENST00000532462.5:c.-25del ENSP00000431657.1:n.-25del
ENST00000544180.6:c.-25del ENSP00000443787.1:n.-25del
NM_001163940.1:c.-25del NP_001157412.1:n.-25del
NM_002863.4:c.-25del NP_002854.3:n.-25del
NM_002863.5:c.-25del MANE Select NP_002854.3:n.-25del
NM_001163940.2:c.-25del NP_001157412.1:n.-25del
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