Canonical Allele Identifier: CA2573152802

Gene: FANCA

Linked Data

• ClinVar Variation Id: 1489484
• ClinVar RCV Id: RCV001978317
• dbSNP Id: rs2143585439

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89799634_89799635delinsTC , CM000678.2:g.89799634_89799635delinsTC	GRCh38
NC_000016.9:g.89866042_89866043delinsTC , CM000678.1:g.89866042_89866043delinsTC	GRCh37
NC_000016.8:g.88393543_88393544delinsTC	NCBI36
NG_011706.1:g.22023_22024delinsGA , LRG_495:g.22023_22024delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.796_797delinsGA	ENSP00000512522.1:p.Thr266Glu
ENST00000563767.2:n.548_549delinsGA
ENST00000564475.6:c.796_797delinsGA	ENSP00000454977.2:p.Thr266Glu
ENST00000567205.2:c.796_797delinsGA	ENSP00000457027.2:p.Thr266Glu
ENST00000567284.7:n.839_840delinsGA
ENST00000567621.6:c.796_797delinsGA	ENSP00000456762.2:p.Thr266Glu
ENST00000568369.6:c.796_797delinsGA	ENSP00000456829.1:p.Thr266Glu
ENST00000696274.1:n.870_871delinsGA
ENST00000696275.1:c.796_797delinsGA	ENSP00000512517.1:p.Thr266Glu
ENST00000696276.1:n.839_840delinsGA
ENST00000696277.1:c.796_797delinsGA	ENSP00000512518.1:p.Thr266Glu
ENST00000696286.1:c.796_797delinsGA	ENSP00000512523.1:p.Thr266Glu
ENST00000696287.1:c.796_797delinsGA	ENSP00000512524.1:p.Thr266Glu
ENST00000696288.1:c.827_828delinsGA	ENSP00000512525.1:n.827_828delinsGA
ENST00000696291.1:c.*140_*141delinsGA	ENSP00000512530.1:n.*140_*141delinsGA
ENST00000696292.1:c.661_662delinsGA	ENSP00000512531.1:n.661_662delinsGA
ENST00000696293.1:c.653_654delinsGA	ENSP00000512532.1:n.653_654delinsGA
ENST00000696294.1:c.631_632delinsGA	ENSP00000512533.1:p.Thr211Glu
ENST00000696295.1:c.631_632delinsGA	ENSP00000512534.1:p.Thr211Glu
ENST00000389301.8:c.796_797delinsGA MANE Select	ENSP00000373952.3:p.Thr266Glu
ENST00000389301.7:c.796_797delinsGA	ENSP00000373952.3:p.Thr266Glu
ENST00000389302.7:c.796_797delinsGA	ENSP00000373953.3:p.Thr266Glu
ENST00000534992.5:c.796_797delinsGA	ENSP00000443675.1:p.Thr266Glu
ENST00000543736.5:c.700_701delinsGA	ENSP00000443409.1:p.Thr234Glu
ENST00000563673.5:c.796_797delinsGA	ENSP00000456443.1:p.Thr266Glu
ENST00000565582.5:c.626_627delinsGA	ENSP00000456722.1:p.His209Arg
ENST00000566889.5:n.1378_1379delinsGA
ENST00000567621.5:c.273_274delinsGA
ENST00000568369.5:c.796_797delinsGA	ENSP00000456829.1:p.Thr266Glu
NM_000135.2:c.796_797delinsGA , LRG_495t1:c.796_797delinsGA	NP_000126.2:p.Thr266Glu
NM_001018112.1:c.796_797delinsGA	NP_001018122.1:p.Thr266Glu
NM_001286167.1:c.796_797delinsGA	NP_001273096.1:p.Thr266Glu
XM_005256294.3:c.796_797delinsGA	XP_005256351.1:p.Thr266Glu
XM_011522945.1:c.796_797delinsGA	XP_011521247.1:p.Thr266Glu
XM_011522946.1:c.-357_-356delinsGA	XP_011521248.1:n.-357_-356delinsGA
XM_011522947.1:c.-115_-114delinsGA	XP_011521249.1:n.-115_-114delinsGA
XM_011522948.1:c.796_797delinsGA	XP_011521250.1:p.Thr266Glu
XR_933244.1:n.839_840delinsGA
XR_933245.1:n.839_840delinsGA
XR_933246.1:n.839_840delinsGA
XR_933247.1:n.839_840delinsGA
NM_000135.3:c.796_797delinsGA	NP_000126.2:p.Thr266Glu
NM_001018112.2:c.796_797delinsGA	NP_001018122.1:p.Thr266Glu
NM_001286167.2:c.796_797delinsGA	NP_001273096.1:p.Thr266Glu
NM_001351830.1:c.700_701delinsGA	NP_001338759.1:p.Thr234Glu
XM_005256294.4:c.796_797delinsGA	XP_005256351.1:p.Thr266Glu
XM_011522945.2:c.796_797delinsGA	XP_011521247.1:p.Thr266Glu
XM_011522946.3:c.-357_-356delinsGA	XP_011521248.1:n.-357_-356delinsGA
XM_011522947.2:c.-115_-114delinsGA	XP_011521249.1:n.-115_-114delinsGA
XM_011522948.2:c.796_797delinsGA	XP_011521250.1:p.Thr266Glu
XM_017023044.2:c.796_797delinsGA	XP_016878533.1:p.Thr266Glu
XM_017023045.1:c.796_797delinsGA	XP_016878534.1:p.Thr266Glu
XM_017023046.1:c.796_797delinsGA	XP_016878535.1:p.Thr266Glu
XM_024450189.1:c.-357_-356delinsGA	XP_024305957.1:n.-357_-356delinsGA
XR_001751866.1:n.839_840delinsGA
XR_001751867.1:n.839_840delinsGA
XR_001751868.2:n.839_840delinsGA
XR_002957793.1:n.839_840delinsGA
XR_933244.2:n.839_840delinsGA
XR_933245.2:n.839_840delinsGA
XR_933247.2:n.839_840delinsGA
NM_000135.4:c.796_797delinsGA MANE Select	NP_000126.2:p.Thr266Glu
NM_001018112.3:c.796_797delinsGA	NP_001018122.1:p.Thr266Glu
NM_001286167.3:c.796_797delinsGA	NP_001273096.1:p.Thr266Glu
NM_001351830.2:c.700_701delinsGA	NP_001338759.1:p.Thr234Glu