Canonical Allele Identifier: CA2136438419
Gene: PYGL HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50944172_50944175delinsTGTC , CM000676.2:g.50944172_50944175delinsTGTC GRCh38
NC_000014.8:g.51410890_51410893delinsTGTC , CM000676.1:g.51410890_51410893delinsTGTC GRCh37
NC_000014.7:g.50480640_50480643delinsTGTC NCBI36
NG_012796.1:g.5356_5359delinsGACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.229_232delinsGACA MANE Select ENSP00000216392.7:p.Asp77=
ENST00000216392.7:c.229_232delinsGACA ENSP00000216392.7:p.Asp77=
ENST00000530336.2:n.296_299delinsGACA
ENST00000532462.5:c.229_232delinsGACA ENSP00000431657.1:p.Asp77=
ENST00000544180.6:c.229_232delinsGACA ENSP00000443787.1:p.Asp77=
NM_001163940.1:c.229_232delinsGACA NP_001157412.1:p.Asp77=
NM_002863.4:c.229_232delinsGACA NP_002854.3:p.Asp77=
NM_002863.5:c.229_232delinsGACA MANE Select NP_002854.3:p.Asp77=
NM_001163940.2:c.229_232delinsGACA NP_001157412.1:p.Asp77=
Search 100 bp 5'
Search 100 bp 3'