Canonical Allele Identifier: CA2624829315
Gene: PYGL HGNC NCBI

Linked Data

gnomAD v4: 14-50944163-T-TG
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50944167dup , CM000676.2:g.50944167dup GRCh38
NC_000014.8:g.51410885dup , CM000676.1:g.51410885dup GRCh37
NC_000014.7:g.50480635dup NCBI36
NG_012796.1:g.5367dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.240dup MANE Select ENSP00000216392.7:p.Lys81GlnfsTer30
ENST00000216392.7:c.240dup ENSP00000216392.7:p.Lys81GlnfsTer30
ENST00000530336.2:n.307dup
ENST00000532462.5:c.240dup ENSP00000431657.1:p.Lys81GlnfsTer30
ENST00000544180.6:c.240dup ENSP00000443787.1:p.Lys81GlnfsTer13
NM_001163940.1:c.240dup NP_001157412.1:p.Lys81GlnfsTer13
NM_002863.4:c.240dup NP_002854.3:p.Lys81GlnfsTer30
NM_002863.5:c.240dup MANE Select NP_002854.3:p.Lys81GlnfsTer30
NM_001163940.2:c.240dup NP_001157412.1:p.Lys81GlnfsTer13
Search 100 bp 5'
Search 100 bp 3'