Canonical Allele Identifier: CA2576136434
Gene: PFN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4945841_4945843del , CM000679.2:g.4945841_4945843del GRCh38
NC_000017.10:g.4849136_4849138del , CM000679.1:g.4849136_4849138del GRCh37
NC_000017.9:g.4789881_4789883del NCBI36
NG_012063.2:g.4751_4753del
NG_032945.1:g.8244_8246del

Transcript Alleles

HGVS Amino-acid Change
ENST00000225655.6:c.*57_*59del MANE Select ENSP00000225655.5:n.*57_*59del
ENST00000225655.5:c.*57_*59del ENSP00000225655.5:n.*57_*59del
ENST00000574872.1:c.*57_*59del ENSP00000465019.1:n.*57_*59del
NM_005022.3:c.*57_*59del NP_005013.1:n.*57_*59del
XM_017024761.1:c.*564_*566del XP_016880250.1:n.*564_*566del
NM_001375991.1:c.*564_*566del NP_001362920.1:n.*564_*566del
NM_005022.4:c.*57_*59del MANE Select NP_005013.1:n.*57_*59del