Canonical Allele Identifier: CA1139664984

Gene: FANCA

Linked Data

• ClinVar Variation Id: 974089
• ClinVar RCV Id: RCV001256330
• dbSNP Id: rs2040843894

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89810709_89811073del , CM000678.2:g.89810709_89811073del	GRCh38
NC_000016.9:g.89877117_89877481del , CM000678.1:g.89877117_89877481del	GRCh37
NC_000016.8:g.88404618_88404982del	NCBI36
NG_011706.1:g.10588_10952del , LRG_495:g.10588_10952del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.285_522+1del
ENST00000563767.2:n.120_357+1del
ENST00000564475.6:c.285_522+1del
ENST00000567205.2:c.285_522+1del
ENST00000567284.7:n.328_565+1del
ENST00000567621.6:c.285_522+1del
ENST00000568369.6:c.285_522+1del
ENST00000696275.1:c.285_522+1del
ENST00000696276.1:n.328_565+1del
ENST00000696277.1:c.285_522+1del
ENST00000696286.1:c.285_522+1del
ENST00000696287.1:c.285_522+1del
ENST00000696288.1:c.316_553+1del
ENST00000696291.1:c.285_522+1del
ENST00000696292.1:c.150_387+1del
ENST00000696293.1:c.142_379+1del
ENST00000696294.1:c.120_357+1del
ENST00000696295.1:c.120_357+1del
ENST00000696296.1:c.120_357+1del
ENST00000389301.8:c.285_522+1del
ENST00000389301.7:c.285_522+1del
ENST00000389302.7:c.285_522+1del
ENST00000534992.5:c.285_522+1del
ENST00000543736.5:c.285_426+223del
ENST00000563513.1:c.284-13_*163+1del
ENST00000563673.5:c.285_522+1del
ENST00000565582.5:c.198_435+1del
ENST00000566889.5:n.867_1104+1del
ENST00000567883.5:n.278_516del
ENST00000568369.5:c.285_522+1del
NM_000135.2:c.285_522+1del , LRG_495t1:c.285_522+1del
NM_001018112.1:c.285_522+1del
NM_001286167.1:c.285_522+1del
XM_005256294.3:c.285_522+1del
XM_011522945.1:c.285_522+1del
XM_011522948.1:c.285_522+1del
XR_933244.1:n.328_565+1del
XR_933245.1:n.328_565+1del
XR_933246.1:n.328_565+1del
XR_933247.1:n.328_565+1del
NM_000135.3:c.285_522+1del
NM_001018112.2:c.285_522+1del
NM_001286167.2:c.285_522+1del
NM_001351830.1:c.285_426+223del
XM_005256294.4:c.285_522+1del
XM_011522945.2:c.285_522+1del
XM_011522946.3:c.-868_-631+1del
XM_011522948.2:c.285_522+1del
XM_017023044.2:c.285_522+1del
XM_017023045.1:c.285_522+1del
XM_017023046.1:c.285_522+1del
XR_001751866.1:n.328_565+1del
XR_001751867.1:n.328_565+1del
XR_001751868.2:n.328_565+1del
XR_002957793.1:n.328_565+1del
XR_933244.2:n.328_565+1del
XR_933245.2:n.328_565+1del
XR_933247.2:n.328_565+1del
NM_000135.4:c.285_522+1del
NM_001018112.3:c.285_522+1del
NM_001286167.3:c.285_522+1del
NM_001351830.2:c.285_426+223del