Canonical Allele Identifier: CA2576136508

Gene: PFN1

Linked Data

• gnomAD v4: 17-4946083-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4946088del , CM000679.2:g.4946088del	GRCh38
NC_000017.10:g.4849383del , CM000679.1:g.4849383del	GRCh37
NC_000017.9:g.4790128del	NCBI36
NG_012063.2:g.4998del
NG_032945.1:g.8003del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225655.6:c.326-87del MANE Select	ENSP00000225655.5:n.326-87del
ENST00000225655.5:c.326-87del	ENSP00000225655.5:n.326-87del
ENST00000574872.1:c.218-87del	ENSP00000465019.1:n.218-87del
NM_005022.3:c.326-87del	NP_005013.1:n.326-87del
XM_017024761.1:c.*323del	XP_016880250.1:n.*323del
NM_001375991.1:c.*323del	NP_001362920.1:n.*323del
NM_005022.4:c.326-87del MANE Select	NP_005013.1:n.326-87del