Canonical Allele Identifier: CA2575525118
Gene: PYGL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50905437del , CM000676.2:g.50905437del GRCh38
NC_000014.8:g.51372155del , CM000676.1:g.51372155del GRCh37
NC_000014.7:g.50441905del NCBI36
NG_012796.1:g.44096del

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.2501del MANE Select ENSP00000216392.7:p.Lys834ArgfsTer17
ENST00000216392.7:c.2501del ENSP00000216392.7:p.Lys834ArgfsTer17
ENST00000532462.5:c.2379+2836del ENSP00000431657.1:n.2379+2836del
ENST00000544180.6:c.2399del ENSP00000443787.1:p.Lys800ArgfsTer17
NM_001163940.1:c.2399del NP_001157412.1:p.Lys800ArgfsTer17
NM_002863.4:c.2501del NP_002854.3:p.Lys834ArgfsTer17
NM_002863.5:c.2501del MANE Select NP_002854.3:p.Lys834ArgfsTer17
NM_001163940.2:c.2399del NP_001157412.1:p.Lys800ArgfsTer17
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