Canonical Allele Identifier: CA2244642425
Gene: PFN1 HGNC NCBI

Linked Data

dbSNP Id: rs1971375134

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4945884del , CM000679.2:g.4945884del GRCh38
NC_000017.10:g.4849179del , CM000679.1:g.4849179del GRCh37
NC_000017.9:g.4789924del NCBI36
NG_012063.2:g.4794del
NG_032945.1:g.8206del

Transcript Alleles

HGVS Amino-acid Change
ENST00000225655.6:c.*19del MANE Select ENSP00000225655.5:n.*19del
ENST00000225655.5:c.*19del ENSP00000225655.5:n.*19del
ENST00000574872.1:c.*19del ENSP00000465019.1:n.*19del
NM_005022.3:c.*19del NP_005013.1:n.*19del
XM_017024761.1:c.*526del XP_016880250.1:n.*526del
NM_001375991.1:c.*526del NP_001362920.1:n.*526del
NM_005022.4:c.*19del MANE Select NP_005013.1:n.*19del