Canonical Allele Identifier: CA287230690
Gene: PFN1 HGNC NCBI

Linked Data

dbSNP Id: rs894209727
gnomAD v3: 17-4945842-TG-T
gnomAD v4: 17-4945842-TG-T
MyVariant Identifiers: chr17:g.4849138del (hg19) chr17:g.4945843del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4945846del , CM000679.2:g.4945846del GRCh38
NC_000017.10:g.4849141del , CM000679.1:g.4849141del GRCh37
NC_000017.9:g.4789886del NCBI36
NG_012063.2:g.4756del
NG_032945.1:g.8244del

Transcript Alleles

HGVS Amino-acid Change
ENST00000225655.6:c.*57del MANE Select ENSP00000225655.5:n.*57del
ENST00000225655.5:c.*57del ENSP00000225655.5:n.*57del
ENST00000574872.1:c.*57del ENSP00000465019.1:n.*57del
NM_005022.3:c.*57del NP_005013.1:n.*57del
XM_017024761.1:c.*564del XP_016880250.1:n.*564del
NM_001375991.1:c.*564del NP_001362920.1:n.*564del
NM_005022.4:c.*57del MANE Select NP_005013.1:n.*57del
Search 100 bp 5'
Search 100 bp 3'