Canonical Allele Identifier: CA2635582908
Gene: PFN1 HGNC NCBI

Linked Data

gnomAD v4: 17-4945839-GTATGGGGAGGAAAGGGGTGCAAAGC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4945841_4945865del , CM000679.2:g.4945841_4945865del GRCh38
NC_000017.10:g.4849136_4849160del , CM000679.1:g.4849136_4849160del GRCh37
NC_000017.9:g.4789881_4789905del NCBI36
NG_012063.2:g.4751_4775del
NG_032945.1:g.8223_8247del

Transcript Alleles

HGVS Amino-acid Change
ENST00000225655.6:c.*36_*60del MANE Select ENSP00000225655.5:n.*36_*60del
ENST00000225655.5:c.*36_*60del ENSP00000225655.5:n.*36_*60del
ENST00000574872.1:c.*36_*60del ENSP00000465019.1:n.*36_*60del
NM_005022.3:c.*36_*60del NP_005013.1:n.*36_*60del
XM_017024761.1:c.*543_*567del XP_016880250.1:n.*543_*567del
NM_001375991.1:c.*543_*567del NP_001362920.1:n.*543_*567del
NM_005022.4:c.*36_*60del MANE Select NP_005013.1:n.*36_*60del
Search 100 bp 5'
Search 100 bp 3'