Canonical Allele Identifier: CA2635583000
Gene: PFN1 HGNC NCBI

Linked Data

gnomAD v4: 17-4945873-GCGGTGA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4945874_4945879del , CM000679.2:g.4945874_4945879del GRCh38
NC_000017.10:g.4849169_4849174del , CM000679.1:g.4849169_4849174del GRCh37
NC_000017.9:g.4789914_4789919del NCBI36
NG_012063.2:g.4784_4789del
NG_032945.1:g.8208_8213del

Transcript Alleles

HGVS Amino-acid Change
ENST00000225655.6:c.*21_*26del MANE Select ENSP00000225655.5:n.*21_*26del
ENST00000225655.5:c.*21_*26del ENSP00000225655.5:n.*21_*26del
ENST00000574872.1:c.*21_*26del ENSP00000465019.1:n.*21_*26del
NM_005022.3:c.*21_*26del NP_005013.1:n.*21_*26del
XM_017024761.1:c.*528_*533del XP_016880250.1:n.*528_*533del
NM_001375991.1:c.*528_*533del NP_001362920.1:n.*528_*533del
NM_005022.4:c.*21_*26del MANE Select NP_005013.1:n.*21_*26del
Search 100 bp 5'
Search 100 bp 3'