Canonical Allele Identifier: CA706601478
Gene: PYGL HGNC NCBI

Linked Data

dbSNP Id: rs1328922803
MyVariant Identifiers: chr14:g.51372083_51372084del (hg19) chr14:g.50905365_50905366del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50905366_50905367del , CM000676.2:g.50905366_50905367del GRCh38
NC_000014.8:g.51372084_51372085del , CM000676.1:g.51372084_51372085del GRCh37
NC_000014.7:g.50441834_50441835del NCBI36
NG_012796.1:g.44165_44166del

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.*26_*27del MANE Select ENSP00000216392.7:n.*26_*27del
ENST00000216392.7:c.*26_*27del ENSP00000216392.7:n.*26_*27del
ENST00000532462.5:c.2379+2905_2379+2906del ENSP00000431657.1:n.2379+2905_2379+2906del
ENST00000544180.6:c.*26_*27del ENSP00000443787.1:n.*26_*27del
NM_001163940.1:c.*26_*27del NP_001157412.1:n.*26_*27del
NM_002863.4:c.*26_*27del NP_002854.3:n.*26_*27del
NM_002863.5:c.*26_*27del MANE Select NP_002854.3:n.*26_*27del
NM_001163940.2:c.*26_*27del NP_001157412.1:n.*26_*27del
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