Canonical Allele Identifier: CA2808297505

Gene: PFN1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4945830_4945831insGG , CM000679.2:g.4945830_4945831insGG	GRCh38
NC_000017.10:g.4849125_4849126insGG , CM000679.1:g.4849125_4849126insGG	GRCh37
NC_000017.9:g.4789870_4789871insGG	NCBI36
NG_012063.2:g.4740_4741insGG
NG_032945.1:g.8256_8257insCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225655.6:c.*69_*70insCC MANE Select	ENSP00000225655.5:n.*69_*70insCC
ENST00000225655.5:c.*69_*70insCC	ENSP00000225655.5:n.*69_*70insCC
ENST00000574872.1:c.*69_*70insCC	ENSP00000465019.1:n.*69_*70insCC
NM_005022.3:c.*69_*70insCC	NP_005013.1:n.*69_*70insCC
XM_017024761.1:c.*576_*577insCC	XP_016880250.1:n.*576_*577insCC
NM_001375991.1:c.*576_*577insCC	NP_001362920.1:n.*576_*577insCC
NM_005022.4:c.*69_*70insCC MANE Select	NP_005013.1:n.*69_*70insCC