Canonical Allele Identifier: CA915949475
Gene: PFN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 646360
ClinVar RCV Id: RCV000800637 RCV001815012
dbSNP Id: rs1597686012
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4945972_4945973delinsAC , CM000679.2:g.4945972_4945973delinsAC GRCh38
NC_000017.10:g.4849267_4849268delinsAC , CM000679.1:g.4849267_4849268delinsAC GRCh37
NC_000017.9:g.4790012_4790013delinsAC NCBI36
NG_012063.2:g.4882_4883delinsAC
NG_032945.1:g.8114_8115delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000225655.6:c.350_351delinsGT MANE Select ENSP00000225655.5:p.Glu117Gly
ENST00000225655.5:c.350_351delinsGT ENSP00000225655.5:p.Glu117Gly
ENST00000574872.1:c.242_243delinsGT ENSP00000465019.1:p.Glu81Gly
NM_005022.3:c.350_351delinsGT NP_005013.1:p.Glu117Gly
XM_017024761.1:c.*434_*435delinsGT XP_016880250.1:n.*434_*435delinsGT
NM_001375991.1:c.*434_*435delinsGT NP_001362920.1:n.*434_*435delinsGT
NM_005022.4:c.350_351delinsGT MANE Select NP_005013.1:p.Glu117Gly
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