Canonical Allele Identifier: CA1957607205
Gene: FANCF HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22625441_22625468delinsCGTCCCGGACGCCCGGGCCGGGAAAGAG , CM000673.2:g.22625441_22625468delinsCGTCCCGGACGCCCGGGCCGGGAAAGAG GRCh38
NC_000011.9:g.22646987_22647014delinsCGTCCCGGACGCCCGGGCCGGGAAAGAG , CM000673.1:g.22646987_22647014delinsCGTCCCGGACGCCCGGGCCGGGAAAGAG GRCh37
NC_000011.8:g.22603563_22603590delinsCGTCCCGGACGCCCGGGCCGGGAAAGAG NCBI36
NG_007425.1:g.5374_5401delinsCTCTTTCCCGGCCCGGGCGTCCGGGACG , LRG_527:g.5374_5401delinsCTCTTTCCCGGCCCGGGCGTCCGGGACG

Transcript Alleles

HGVS Amino-acid Change
ENST00000327470.6:c.343_370delinsCTCTTTCCCGGCCCGGGCGTCCGGGACG MANE Select ENSP00000330875.3:p.Leu115=
ENST00000327470.4:c.343_370delinsCTCTTTCCCGGCCCGGGCGTCCGGGACG ENSP00000330875.3:p.Leu115=
NM_022725.3:c.343_370delinsCTCTTTCCCGGCCCGGGCGTCCGGGACG , LRG_527t1:c.343_370delinsCTCTTTCCCGGCCCGGGCGTCCGGGACG NP_073562.1:p.Leu115=
NM_022725.4:c.343_370delinsCTCTTTCCCGGCCCGGGCGTCCGGGACG MANE Select NP_073562.1:p.Leu115=
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