Canonical Allele Identifier: CA2499223867

Gene: FANCA

Linked Data

• ClinVar Variation Id: 1149717
• ClinVar RCV Id: RCV001490045

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89799635_89799636delinsCA , CM000678.2:g.89799635_89799636delinsCA	GRCh38
NC_000016.9:g.89866043_89866044delinsCA , CM000678.1:g.89866043_89866044delinsCA	GRCh37
NC_000016.8:g.88393544_88393545delinsCA	NCBI36
NG_011706.1:g.22022_22023delinsTG , LRG_495:g.22022_22023delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.795_796delinsTG	ENSP00000512522.1:p.Thr266Ala
ENST00000563767.2:n.547_548delinsTG
ENST00000564475.6:c.795_796delinsTG	ENSP00000454977.2:p.Thr266Ala
ENST00000567205.2:c.795_796delinsTG	ENSP00000457027.2:p.Thr266Ala
ENST00000567284.7:n.838_839delinsTG
ENST00000567621.6:c.795_796delinsTG	ENSP00000456762.2:p.Thr266Ala
ENST00000568369.6:c.795_796delinsTG	ENSP00000456829.1:p.Thr266Ala
ENST00000696274.1:n.869_870delinsTG
ENST00000696275.1:c.795_796delinsTG	ENSP00000512517.1:p.Thr266Ala
ENST00000696276.1:n.838_839delinsTG
ENST00000696277.1:c.795_796delinsTG	ENSP00000512518.1:p.Thr266Ala
ENST00000696286.1:c.795_796delinsTG	ENSP00000512523.1:p.Thr266Ala
ENST00000696287.1:c.795_796delinsTG	ENSP00000512524.1:p.Thr266Ala
ENST00000696288.1:c.826_827delinsTG	ENSP00000512525.1:n.826_827delinsTG
ENST00000696291.1:c.*139_*140delinsTG	ENSP00000512530.1:n.*139_*140delinsTG
ENST00000696292.1:c.660_661delinsTG	ENSP00000512531.1:n.660_661delinsTG
ENST00000696293.1:c.652_653delinsTG	ENSP00000512532.1:n.652_653delinsTG
ENST00000696294.1:c.630_631delinsTG	ENSP00000512533.1:p.Thr211Ala
ENST00000696295.1:c.630_631delinsTG	ENSP00000512534.1:p.Thr211Ala
ENST00000389301.8:c.795_796delinsTG MANE Select	ENSP00000373952.3:p.Thr266Ala
ENST00000389301.7:c.795_796delinsTG	ENSP00000373952.3:p.Thr266Ala
ENST00000389302.7:c.795_796delinsTG	ENSP00000373953.3:p.Thr266Ala
ENST00000534992.5:c.795_796delinsTG	ENSP00000443675.1:p.Thr266Ala
ENST00000543736.5:c.699_700delinsTG	ENSP00000443409.1:p.Thr234Ala
ENST00000563673.5:c.795_796delinsTG	ENSP00000456443.1:p.Thr266Ala
ENST00000565582.5:c.625_626delinsTG	ENSP00000456722.1:p.His209Cys
ENST00000566889.5:n.1377_1378delinsTG
ENST00000567621.5:c.272_273delinsTG
ENST00000568369.5:c.795_796delinsTG	ENSP00000456829.1:p.Thr266Ala
NM_000135.2:c.795_796delinsTG , LRG_495t1:c.795_796delinsTG	NP_000126.2:p.Thr266Ala
NM_001018112.1:c.795_796delinsTG	NP_001018122.1:p.Thr266Ala
NM_001286167.1:c.795_796delinsTG	NP_001273096.1:p.Thr266Ala
XM_005256294.3:c.795_796delinsTG	XP_005256351.1:p.Thr266Ala
XM_011522945.1:c.795_796delinsTG	XP_011521247.1:p.Thr266Ala
XM_011522946.1:c.-358_-357delinsTG	XP_011521248.1:n.-358_-357delinsTG
XM_011522947.1:c.-116_-115delinsTG	XP_011521249.1:n.-116_-115delinsTG
XM_011522948.1:c.795_796delinsTG	XP_011521250.1:p.Thr266Ala
XR_933244.1:n.838_839delinsTG
XR_933245.1:n.838_839delinsTG
XR_933246.1:n.838_839delinsTG
XR_933247.1:n.838_839delinsTG
NM_000135.3:c.795_796delinsTG	NP_000126.2:p.Thr266Ala
NM_001018112.2:c.795_796delinsTG	NP_001018122.1:p.Thr266Ala
NM_001286167.2:c.795_796delinsTG	NP_001273096.1:p.Thr266Ala
NM_001351830.1:c.699_700delinsTG	NP_001338759.1:p.Thr234Ala
XM_005256294.4:c.795_796delinsTG	XP_005256351.1:p.Thr266Ala
XM_011522945.2:c.795_796delinsTG	XP_011521247.1:p.Thr266Ala
XM_011522946.3:c.-358_-357delinsTG	XP_011521248.1:n.-358_-357delinsTG
XM_011522947.2:c.-116_-115delinsTG	XP_011521249.1:n.-116_-115delinsTG
XM_011522948.2:c.795_796delinsTG	XP_011521250.1:p.Thr266Ala
XM_017023044.2:c.795_796delinsTG	XP_016878533.1:p.Thr266Ala
XM_017023045.1:c.795_796delinsTG	XP_016878534.1:p.Thr266Ala
XM_017023046.1:c.795_796delinsTG	XP_016878535.1:p.Thr266Ala
XM_024450189.1:c.-358_-357delinsTG	XP_024305957.1:n.-358_-357delinsTG
XR_001751866.1:n.838_839delinsTG
XR_001751867.1:n.838_839delinsTG
XR_001751868.2:n.838_839delinsTG
XR_002957793.1:n.838_839delinsTG
XR_933244.2:n.838_839delinsTG
XR_933245.2:n.838_839delinsTG
XR_933247.2:n.838_839delinsTG
NM_000135.4:c.795_796delinsTG MANE Select	NP_000126.2:p.Thr266Ala
NM_001018112.3:c.795_796delinsTG	NP_001018122.1:p.Thr266Ala
NM_001286167.3:c.795_796delinsTG	NP_001273096.1:p.Thr266Ala
NM_001351830.2:c.699_700delinsTG	NP_001338759.1:p.Thr234Ala