Canonical Allele Identifier: CA614275204
Gene: PYGL HGNC NCBI

Linked Data

ClinVar Variation Id: 2075738
ClinVar RCV Id: RCV002967944
dbSNP Id: rs1469198620
gnomAD v2: 14-51410924-CCCCACCAGGTGGTCGCGCA-C
gnomAD v3: 14-50944206-CCCCACCAGGTGGTCGCGCA-C
gnomAD v4: 14-50944206-CCCCACCAGGTGGTCGCGCA-C
MyVariant Identifiers: chr14:g.51410925_51410943del (hg19) chr14:g.50944207_50944225del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50944209_50944227del , CM000676.2:g.50944209_50944227del GRCh38
NC_000014.8:g.51410927_51410945del , CM000676.1:g.51410927_51410945del GRCh37
NC_000014.7:g.50480677_50480695del NCBI36
NG_012796.1:g.5306_5324del

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.179_197del MANE Select ENSP00000216392.7:p.Val60GlyfsTer?
ENST00000216392.7:c.179_197del ENSP00000216392.7:p.Val60GlyfsTer?
ENST00000530336.2:n.246_264del
ENST00000532462.5:c.179_197del ENSP00000431657.1:p.Val60GlyfsTer?
ENST00000544180.6:c.179_197del ENSP00000443787.1:p.Val60GlyfsTer21
NM_001163940.1:c.179_197del NP_001157412.1:p.Val60GlyfsTer21
NM_002863.4:c.179_197del NP_002854.3:p.Val60GlyfsTer?
NM_002863.5:c.179_197del MANE Select NP_002854.3:p.Val60GlyfsTer?
NM_001163940.2:c.179_197del NP_001157412.1:p.Val60GlyfsTer21
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