Canonical Allele Identifier: CA919780135
Gene: PFN1 HGNC NCBI

Linked Data

dbSNP Id: rs1597685771

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4945825_4945826del , CM000679.2:g.4945825_4945826del GRCh38
NC_000017.10:g.4849120_4849121del , CM000679.1:g.4849120_4849121del GRCh37
NC_000017.9:g.4789865_4789866del NCBI36
NG_012063.2:g.4735_4736del
NG_032945.1:g.8263_8264del

Transcript Alleles

HGVS Amino-acid Change
ENST00000225655.6:c.*76_*77del MANE Select ENSP00000225655.5:n.*76_*77del
ENST00000225655.5:c.*76_*77del ENSP00000225655.5:n.*76_*77del
ENST00000574872.1:c.*76_*77del ENSP00000465019.1:n.*76_*77del
NM_005022.3:c.*76_*77del NP_005013.1:n.*76_*77del
XM_017024761.1:c.*583_*584del XP_016880250.1:n.*583_*584del
NM_001375991.1:c.*583_*584del NP_001362920.1:n.*583_*584del
NM_005022.4:c.*76_*77del MANE Select NP_005013.1:n.*76_*77del