Canonical Allele Identifier: CA2739270376
Gene: FANCF HGNC NCBI

Linked Data

ClinVar Variation Id: 2894057
ClinVar RCV Id: RCV003636510

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22625306_22625307delinsAT , CM000673.2:g.22625306_22625307delinsAT GRCh38
NC_000011.9:g.22646852_22646853delinsAT , CM000673.1:g.22646852_22646853delinsAT GRCh37
NC_000011.8:g.22603428_22603429delinsAT NCBI36
NG_007425.1:g.5535_5536delinsAT , LRG_527:g.5535_5536delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000327470.6:c.504_505delinsAT MANE Select ENSP00000330875.3:p.Glu168=
ENST00000327470.4:c.504_505delinsAT ENSP00000330875.3:p.Glu168=
NM_022725.3:c.504_505delinsAT , LRG_527t1:c.504_505delinsAT NP_073562.1:p.Glu168=
NM_022725.4:c.504_505delinsAT MANE Select NP_073562.1:p.Glu168=