Canonical Allele Identifier: CA2694155917
Gene: PGK1 HGNC NCBI

Linked Data

gnomAD v4: X-78118165-GGGC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.78118168_78118170del , CM000685.2:g.78118168_78118170del GRCh38
NC_000023.10:g.77373665_77373667del , CM000685.1:g.77373665_77373667del GRCh37
NC_000023.9:g.77260321_77260323del NCBI36
NG_008862.1:g.19000_19002del

Transcript Alleles

HGVS Amino-acid Change
ENST00000373316.5:c.639_641del MANE Select ENSP00000362413.4:p.Gly214del
ENST00000644362.1:c.555_557del ENSP00000496140.1:p.Gly186del
ENST00000373316.4:c.639_641del ENSP00000362413.4:p.Gly214del
ENST00000491291.1:n.631_633del
NM_000291.3:c.639_641del NP_000282.1:p.Gly214del
NM_000291.4:c.639_641del MANE Select NP_000282.1:p.Gly214del
Search 100 bp 5'
Search 100 bp 3'