Canonical Allele Identifier: CA2579650845
Gene: PGK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.78123254del , CM000685.2:g.78123254del GRCh38
NC_000023.10:g.77378751del , CM000685.1:g.77378751del GRCh37
NC_000023.9:g.77265407del NCBI36
NG_008862.1:g.24086del

Transcript Alleles

HGVS Amino-acid Change
ENST00000373316.5:c.816del MANE Select ENSP00000362413.4:p.Ala273LeufsTer6
ENST00000644362.1:c.732del ENSP00000496140.1:p.Ala245LeufsTer6
ENST00000373316.4:c.816del ENSP00000362413.4:p.Ala273LeufsTer6
ENST00000474281.1:n.223del
NM_000291.3:c.816del NP_000282.1:p.Ala273LeufsTer6
NM_000291.4:c.816del MANE Select NP_000282.1:p.Ala273LeufsTer6