Canonical Allele Identifier: CA5924342
Gene: FANCF HGNC NCBI

Linked Data

dbSNP Id: rs771596222
ExAC: 11:22646949 A / AAGGCGGGCC
gnomAD v2: 11-22646949-A-AAGGCGGGCC
gnomAD v3: 11-22625403-A-AAGGCGGGCC
gnomAD v4: 11-22625403-A-AAGGCGGGCC
MyVariant Identifiers: chr11:g.22646949_22646950insAGGCGGGCC (hg19) chr11:g.22625403_22625404insAGGCGGGCC (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22625408_22625416dup , CM000673.2:g.22625408_22625416dup GRCh38
NC_000011.9:g.22646954_22646962dup , CM000673.1:g.22646954_22646962dup GRCh37
NC_000011.8:g.22603530_22603538dup NCBI36
NG_007425.1:g.5430_5438dup , LRG_527:g.5430_5438dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000327470.6:c.399_407dup MANE Select ENSP00000330875.3:p.Leu136_Ala137insAlaArgLeu
ENST00000327470.4:c.399_407dup ENSP00000330875.3:p.Leu136_Ala137insAlaArgLeu
NM_022725.3:c.399_407dup , LRG_527t1:c.399_407dup NP_073562.1:p.Leu136_Ala137insAlaArgLeu
NM_022725.4:c.399_407dup MANE Select NP_073562.1:p.Leu136_Ala137insAlaArgLeu
Search 100 bp 5'
Search 100 bp 3'