Canonical Allele Identifier: CA913191110

Gene: FANCA

Linked Data

• ClinVar Variation Id: 632554
• ClinVar RCV Id: RCV000779594

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89744959_89748767del , CM000678.2:g.89744959_89748767del	GRCh38
NC_000016.9:g.89811367_89815175del , CM000678.1:g.89811367_89815175del	GRCh37
NC_000016.8:g.88338868_88342676del	NCBI36
NG_011706.1:g.72892_76700del , LRG_495:g.72892_76700del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.*1719_*2104+1del
ENST00000564475.6:c.3241_3626+1del
ENST00000567510.2:c.1811_2196+1del
ENST00000568369.6:c.3241_3626+1del
ENST00000568983.6:n.260_646del
ENST00000696274.1:n.3202_3587+1del
ENST00000696275.1:c.*2476_*2861+1del
ENST00000696286.1:c.3241_3626+1del
ENST00000696287.1:c.3112_3497+1del
ENST00000696291.1:c.*2673_*3058+1del
ENST00000389301.8:c.3241_3626+1del
ENST00000305699.15:n.484_869+1del
ENST00000389301.7:c.3241_3626+1del
ENST00000567988.5:c.493_878+1del
ENST00000568369.5:c.3241_3626+1del
ENST00000568626.1:c.89_474+1del
ENST00000568983.5:n.69_455del
NM_000135.2:c.3241_3626+1del , LRG_495t1:c.3241_3626+1del
NM_001286167.1:c.3241_3626+1del
XM_005256294.3:c.3241_3626+1del
XM_011522945.1:c.3112_3497+1del
XM_011522946.1:c.2218_2603+1del
XM_011522947.1:c.2218_2603+1del
XR_933244.1:n.3284_3669+1del
XR_933245.1:n.3284_3669+1del
XR_933246.1:n.3111_3496+1del
NM_000135.3:c.3241_3626+1del
NM_001286167.2:c.3241_3626+1del
XM_005256294.4:c.3241_3626+1del
XM_011522945.2:c.3112_3497+1del
XM_011522946.3:c.2218_2603+1del
XM_011522947.2:c.2218_2603+1del
XM_017023044.2:c.3112_3497+1del
XM_024450189.1:c.2218_2603+1del
XR_001751866.1:n.3111_3496+1del
XR_933244.2:n.3284_3669+1del
XR_933245.2:n.3284_3669+1del
NM_000135.4:c.3241_3626+1del
NM_001286167.3:c.3241_3626+1del