Canonical Allele Identifier: CA658797599

Linked Data

ClinVar Variation Id: 526378
ClinVar RCV Id: RCV000630900
dbSNP Id: rs1554963731

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22625715_22625717dup , CM000673.2:g.22625715_22625717dup GRCh38
NC_000011.9:g.22647261_22647263dup , CM000673.1:g.22647261_22647263dup GRCh37
NC_000011.8:g.22603837_22603839dup NCBI36
NG_007425.1:g.5127_5129dup , LRG_527:g.5127_5129dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000327470.6:c.96_98dup (FANCF) MANE Select ENSP00000330875.3:p.Arg33_Ala34insArg
ENST00000648096.1:n.207_209dup (GAS2)
ENST00000327470.4:c.96_98dup (FANCF) ENSP00000330875.3:p.Arg33_Ala34insArg
ENST00000528582.5:c.-119_-117dup (GAS2) ENSP00000432584.1:n.-119_-117dup
NM_022725.3:c.96_98dup , LRG_527t1:c.96_98dup (FANCF) NP_073562.1:p.Arg33_Ala34insArg
NM_022725.4:c.96_98dup (FANCF) MANE Select NP_073562.1:p.Arg33_Ala34insArg