Canonical Allele Identifier: CA2635583046
Gene: PFN1 HGNC NCBI

Linked Data

gnomAD v4: 17-4945884-GA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4945886del , CM000679.2:g.4945886del GRCh38
NC_000017.10:g.4849181del , CM000679.1:g.4849181del GRCh37
NC_000017.9:g.4789926del NCBI36
NG_012063.2:g.4796del
NG_032945.1:g.8202del

Transcript Alleles

HGVS Amino-acid Change
ENST00000225655.6:c.*15del MANE Select ENSP00000225655.5:n.*15del
ENST00000225655.5:c.*15del ENSP00000225655.5:n.*15del
ENST00000574872.1:c.*15del ENSP00000465019.1:n.*15del
NM_005022.3:c.*15del NP_005013.1:n.*15del
XM_017024761.1:c.*522del XP_016880250.1:n.*522del
NM_001375991.1:c.*522del NP_001362920.1:n.*522del
NM_005022.4:c.*15del MANE Select NP_005013.1:n.*15del
Search 100 bp 5'
Search 100 bp 3'