Canonical Allele Identifier: CA980974468

Gene: PFN1

Linked Data

• dbSNP Id: rs1971372731
• gnomAD v3: 17-4945819-AAAT-A
• gnomAD v4: 17-4945819-AAAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4945822_4945824del , CM000679.2:g.4945822_4945824del	GRCh38
NC_000017.10:g.4849117_4849119del , CM000679.1:g.4849117_4849119del	GRCh37
NC_000017.9:g.4789862_4789864del	NCBI36
NG_012063.2:g.4732_4734del
NG_032945.1:g.8265_8267del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225655.6:c.*78_*80del MANE Select	ENSP00000225655.5:n.*78_*80del
ENST00000225655.5:c.*78_*80del	ENSP00000225655.5:n.*78_*80del
ENST00000574872.1:c.*78_*80del	ENSP00000465019.1:n.*78_*80del
NM_005022.3:c.*78_*80del	NP_005013.1:n.*78_*80del
XM_017024761.1:c.*585_*587del	XP_016880250.1:n.*585_*587del
NM_001375991.1:c.*585_*587del	NP_001362920.1:n.*585_*587del
NM_005022.4:c.*78_*80del MANE Select	NP_005013.1:n.*78_*80del