Canonical Allele Identifier: CA2244642758
Gene: PFN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4946034_4946035delinsAG , CM000679.2:g.4946034_4946035delinsAG GRCh38
NC_000017.10:g.4849329_4849330delinsAG , CM000679.1:g.4849329_4849330delinsAG GRCh37
NC_000017.9:g.4790074_4790075delinsAG NCBI36
NG_012063.2:g.4944_4945delinsAG
NG_032945.1:g.8052_8053delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000225655.6:c.326-38_326-37delinsCT MANE Select ENSP00000225655.5:n.326-38_326-37delinsCT
ENST00000225655.5:c.326-38_326-37delinsCT ENSP00000225655.5:n.326-38_326-37delinsCT
ENST00000574872.1:c.218-38_218-37delinsCT ENSP00000465019.1:n.218-38_218-37delinsCT
NM_005022.3:c.326-38_326-37delinsCT NP_005013.1:n.326-38_326-37delinsCT
XM_017024761.1:c.*372_*373delinsCT XP_016880250.1:n.*372_*373delinsCT
NM_001375991.1:c.*372_*373delinsCT NP_001362920.1:n.*372_*373delinsCT
NM_005022.4:c.326-38_326-37delinsCT MANE Select NP_005013.1:n.326-38_326-37delinsCT