Canonical Allele Identifier: CA1139663487
Gene: PYGL HGNC NCBI

Linked Data

ClinVar Variation Id: 870861
ClinVar RCV Id: RCV001090534
dbSNP Id: rs2050729007
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50944216_50944217insCT , CM000676.2:g.50944216_50944217insCT GRCh38
NC_000014.8:g.51410934_51410935insCT , CM000676.1:g.51410934_51410935insCT GRCh37
NC_000014.7:g.50480684_50480685insCT NCBI36
NG_012796.1:g.5315_5316insGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.188_189insGA MANE Select ENSP00000216392.7:p.His63GlnfsTer?
ENST00000216392.7:c.188_189insGA ENSP00000216392.7:p.His63GlnfsTer?
ENST00000530336.2:n.255_256insGA
ENST00000532462.5:c.188_189insGA ENSP00000431657.1:p.His63GlnfsTer?
ENST00000544180.6:c.188_189insGA ENSP00000443787.1:p.His63GlnfsTer25
NM_001163940.1:c.188_189insGA NP_001157412.1:p.His63GlnfsTer25
NM_002863.4:c.188_189insGA NP_002854.3:p.His63GlnfsTer?
NM_002863.5:c.188_189insGA MANE Select NP_002854.3:p.His63GlnfsTer?
NM_001163940.2:c.188_189insGA NP_001157412.1:p.His63GlnfsTer25
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