Canonical Allele Identifier: CA915949440

Gene: FANCA

Linked Data

• ClinVar Variation Id: 644950
• ClinVar RCV Id: RCV000798954
• dbSNP Id: rs1598191053

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89811060_89811061delinsAA , CM000678.2:g.89811060_89811061delinsAA	GRCh38
NC_000016.9:g.89877468_89877469delinsAA , CM000678.1:g.89877468_89877469delinsAA	GRCh37
NC_000016.8:g.88404969_88404970delinsAA	NCBI36
NG_011706.1:g.10597_10598delinsTT , LRG_495:g.10597_10598delinsTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000561667.2:c.294_295delinsTT	ENSP00000512522.1:p.Leu98PhefsTer2
ENST00000563767.2:n.129_130delinsTT
ENST00000564475.6:c.294_295delinsTT	ENSP00000454977.2:p.Leu98PhefsTer2
ENST00000567205.2:c.294_295delinsTT	ENSP00000457027.2:p.Leu98PhefsTer2
ENST00000567284.7:n.337_338delinsTT
ENST00000567621.6:c.294_295delinsTT	ENSP00000456762.2:p.Leu98PhefsTer2
ENST00000568369.6:c.294_295delinsTT	ENSP00000456829.1:p.Leu98PhefsTer2
ENST00000696275.1:c.294_295delinsTT	ENSP00000512517.1:p.Leu98PhefsTer2
ENST00000696276.1:n.337_338delinsTT
ENST00000696277.1:c.294_295delinsTT	ENSP00000512518.1:p.Leu98PhefsTer2
ENST00000696286.1:c.294_295delinsTT	ENSP00000512523.1:p.Leu98PhefsTer2
ENST00000696287.1:c.294_295delinsTT	ENSP00000512524.1:p.Leu98PhefsTer2
ENST00000696288.1:c.325_326delinsTT	ENSP00000512525.1:n.325_326delinsTT
ENST00000696291.1:c.294_295delinsTT	ENSP00000512530.1:p.Leu98PhefsTer2
ENST00000696292.1:c.159_160delinsTT	ENSP00000512531.1:n.159_160delinsTT
ENST00000696293.1:c.151_152delinsTT	ENSP00000512532.1:n.151_152delinsTT
ENST00000696294.1:c.129_130delinsTT	ENSP00000512533.1:p.Leu43PhefsTer2
ENST00000696295.1:c.129_130delinsTT	ENSP00000512534.1:p.Leu43PhefsTer2
ENST00000696296.1:c.129_130delinsTT	ENSP00000512535.1:p.Leu43PhefsTer2
ENST00000389301.8:c.294_295delinsTT MANE Select	ENSP00000373952.3:p.Leu98PhefsTer2
ENST00000389301.7:c.294_295delinsTT	ENSP00000373952.3:p.Leu98PhefsTer2
ENST00000389302.7:c.294_295delinsTT	ENSP00000373953.3:p.Leu98PhefsTer2
ENST00000534992.5:c.294_295delinsTT	ENSP00000443675.1:p.Leu98PhefsTer2
ENST00000543736.5:c.294_295delinsTT	ENSP00000443409.1:p.Leu98PhefsTer2
ENST00000563513.1:c.284-4_284-3delinsTT	ENSP00000455946.1:n.284-4_284-3delinsTT
ENST00000563673.5:c.294_295delinsTT	ENSP00000456443.1:p.Leu98PhefsTer2
ENST00000565582.5:c.207_208delinsTT	ENSP00000456722.1:p.Leu69PhefsTer2
ENST00000566889.5:n.876_877delinsTT
ENST00000567883.5:n.287_288delinsTT
ENST00000567943.1:c.*274_*275delinsTT	ENSP00000455941.1:n.*274_*275delinsTT
ENST00000568369.5:c.294_295delinsTT	ENSP00000456829.1:p.Leu98PhefsTer2
NM_000135.2:c.294_295delinsTT , LRG_495t1:c.294_295delinsTT	NP_000126.2:p.Leu98PhefsTer2
NM_001018112.1:c.294_295delinsTT	NP_001018122.1:p.Leu98PhefsTer2
NM_001286167.1:c.294_295delinsTT	NP_001273096.1:p.Leu98PhefsTer2
XM_005256294.3:c.294_295delinsTT	XP_005256351.1:p.Leu98PhefsTer2
XM_011522945.1:c.294_295delinsTT	XP_011521247.1:p.Leu98PhefsTer2
XM_011522948.1:c.294_295delinsTT	XP_011521250.1:p.Leu98PhefsTer2
XR_933244.1:n.337_338delinsTT
XR_933245.1:n.337_338delinsTT
XR_933246.1:n.337_338delinsTT
XR_933247.1:n.337_338delinsTT
NM_000135.3:c.294_295delinsTT	NP_000126.2:p.Leu98PhefsTer2
NM_001018112.2:c.294_295delinsTT	NP_001018122.1:p.Leu98PhefsTer2
NM_001286167.2:c.294_295delinsTT	NP_001273096.1:p.Leu98PhefsTer2
NM_001351830.1:c.294_295delinsTT	NP_001338759.1:p.Leu98PhefsTer2
XM_005256294.4:c.294_295delinsTT	XP_005256351.1:p.Leu98PhefsTer2
XM_011522945.2:c.294_295delinsTT	XP_011521247.1:p.Leu98PhefsTer2
XM_011522946.3:c.-859_-858delinsTT	XP_011521248.1:n.-859_-858delinsTT
XM_011522948.2:c.294_295delinsTT	XP_011521250.1:p.Leu98PhefsTer2
XM_017023044.2:c.294_295delinsTT	XP_016878533.1:p.Leu98PhefsTer2
XM_017023045.1:c.294_295delinsTT	XP_016878534.1:p.Leu98PhefsTer2
XM_017023046.1:c.294_295delinsTT	XP_016878535.1:p.Leu98PhefsTer2
XR_001751866.1:n.337_338delinsTT
XR_001751867.1:n.337_338delinsTT
XR_001751868.2:n.337_338delinsTT
XR_002957793.1:n.337_338delinsTT
XR_933244.2:n.337_338delinsTT
XR_933245.2:n.337_338delinsTT
XR_933247.2:n.337_338delinsTT
NM_000135.4:c.294_295delinsTT MANE Select	NP_000126.2:p.Leu98PhefsTer2
NM_001018112.3:c.294_295delinsTT	NP_001018122.1:p.Leu98PhefsTer2
NM_001286167.3:c.294_295delinsTT	NP_001273096.1:p.Leu98PhefsTer2
NM_001351830.2:c.294_295delinsTT	NP_001338759.1:p.Leu98PhefsTer2