Canonical Allele Identifier: CA2624829772
Gene: PYGL HGNC NCBI

Linked Data

gnomAD v4: 14-50944357-A-ATGCTGATCTGCCGCCGC
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50944359_50944375dup , CM000676.2:g.50944359_50944375dup GRCh38
NC_000014.8:g.51411077_51411093dup , CM000676.1:g.51411077_51411093dup GRCh37
NC_000014.7:g.50480827_50480843dup NCBI36
NG_012796.1:g.5157_5173dup

Transcript Alleles

HGVS Amino-acid change
ENST00000216392.8:c.30_46dup MANE Select ENSP00000216392.7:p.Ile16SerfsTer19
ENST00000216392.7:c.30_46dup ENSP00000216392.7:p.Ile16SerfsTer19
ENST00000530336.2:n.97_113dup
ENST00000532462.5:c.30_46dup ENSP00000431657.1:p.Ile16SerfsTer19
ENST00000544180.6:c.30_46dup ENSP00000443787.1:p.Ile16SerfsTer19
NM_001163940.1:c.30_46dup NP_001157412.1:p.Ile16SerfsTer19
NM_002863.4:c.30_46dup NP_002854.3:p.Ile16SerfsTer19
NM_002863.5:c.30_46dup MANE Select NP_002854.3:p.Ile16SerfsTer19
NM_001163940.2:c.30_46dup NP_001157412.1:p.Ile16SerfsTer19
Search 100 bp 5'
Search 100 bp 3'