Canonical Allele Identifier: CA2136411223
Gene: PYGL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50905450_50905453delinsTCCA , CM000676.2:g.50905450_50905453delinsTCCA GRCh38
NC_000014.8:g.51372168_51372171delinsTCCA , CM000676.1:g.51372168_51372171delinsTCCA GRCh37
NC_000014.7:g.50441918_50441921delinsTCCA NCBI36
NG_012796.1:g.44078_44081delinsTGGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.2483_2486delinsTGGA MANE Select ENSP00000216392.7:p.Val828=
ENST00000216392.7:c.2483_2486delinsTGGA ENSP00000216392.7:p.Val828=
ENST00000532462.5:c.2379+2818_2379+2821delinsTGGA ENSP00000431657.1:n.2379+2818_2379+2821delinsTGGA
ENST00000544180.6:c.2381_2384delinsTGGA ENSP00000443787.1:p.Val794=
NM_001163940.1:c.2381_2384delinsTGGA NP_001157412.1:p.Val794=
NM_002863.4:c.2483_2486delinsTGGA NP_002854.3:p.Val828=
NM_002863.5:c.2483_2486delinsTGGA MANE Select NP_002854.3:p.Val828=
NM_001163940.2:c.2381_2384delinsTGGA NP_001157412.1:p.Val794=
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