Canonical Allele Identifier: CA7183284
Gene: PYGL HGNC NCBI

Linked Data

dbSNP Id: rs760051052
ExAC: 14:51378453 T / TC
gnomAD v2: 14-51378453-T-TC
gnomAD v3: 14-50911735-T-TC
gnomAD v4: 14-50911735-T-TC
MyVariant Identifiers: chr14:g.51378453_51378454insC (hg19) chr14:g.50911735_50911736insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50911736dup , CM000676.2:g.50911736dup GRCh38
NC_000014.8:g.51378454dup , CM000676.1:g.51378454dup GRCh37
NC_000014.7:g.50448204dup NCBI36
NG_012796.1:g.37795dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.1963dup MANE Select ENSP00000216392.7:p.Glu655GlyfsTer?
ENST00000216392.7:c.1963dup ENSP00000216392.7:p.Glu655GlyfsTer?
ENST00000532107.2:n.136dup
ENST00000532462.5:c.1963dup ENSP00000431657.1:p.Glu655GlyfsTer?
ENST00000544180.6:c.1861dup ENSP00000443787.1:p.Glu621GlyfsTer?
NM_001163940.1:c.1861dup NP_001157412.1:p.Glu621GlyfsTer?
NM_002863.4:c.1963dup NP_002854.3:p.Glu655GlyfsTer?
NM_002863.5:c.1963dup MANE Select NP_002854.3:p.Glu655GlyfsTer?
NM_001163940.2:c.1861dup NP_001157412.1:p.Glu621GlyfsTer?
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