Canonical Allele Identifier: CA2695201179
Gene: FANCA HGNC NCBI

Linked Data

ClinVar Variation Id: 2663995
ClinVar RCV Id: RCV003444457

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89772493_89781892del , CM000678.2:g.89772493_89781892del GRCh38
NC_000016.9:g.89838901_89848300del , CM000678.1:g.89838901_89848300del GRCh37
NC_000016.8:g.88366402_88375801del NCBI36
NG_011706.1:g.39766_49165del , LRG_495:g.39766_49165del

Transcript Alleles

HGVS Amino-acid change
ENST00000561667.2:c.1626+967_*205-679del
ENST00000564475.6:c.1626+967_2015-679del
ENST00000567205.2:c.1626+967_2015-679del
ENST00000567284.7:n.1669+967_2058-679del
ENST00000568369.6:c.1626+967_2015-679del
ENST00000696274.1:n.1587+967_1976-679del
ENST00000696275.1:c.*861+967_*1250-679del
ENST00000696276.1:n.1669+967_2058-679del
ENST00000696286.1:c.1626+967_2015-679del
ENST00000696287.1:c.1626+967_2015-679del
ENST00000696291.1:c.*970+967_*1431-679del
ENST00000389301.8:c.1626+967_2015-679del
ENST00000389301.7:c.1626+967_2015-679del
ENST00000568369.5:c.1626+967_2015-679del
NM_000135.2:c.1626+967_2015-679del , LRG_495t1:c.1626+967_2015-679del
NM_001286167.1:c.1626+967_2015-679del
XM_005256294.3:c.1626+967_2015-679del
XM_011522945.1:c.1626+967_2015-679del
XM_011522946.1:c.603+967_992-679del
XM_011522947.1:c.603+967_992-679del
XM_011522948.1:c.1626+967_2015-679del
XR_933244.1:n.1669+967_2058-679del
XR_933245.1:n.1669+967_2058-679del
XR_933246.1:n.1669+967_2058-679del
XR_933247.1:n.1669+967_2058-679del
NM_000135.3:c.1626+967_2015-679del
NM_001286167.2:c.1626+967_2015-679del
XM_005256294.4:c.1626+967_2015-679del
XM_011522945.2:c.1626+967_2015-679del
XM_011522946.3:c.603+967_992-679del
XM_011522947.2:c.603+967_992-679del
XM_011522948.2:c.1626+967_2015-679del
XM_017023044.2:c.1626+967_2015-679del
XM_017023045.1:c.1626+967_2015-679del
XM_024450189.1:c.603+967_992-679del
XR_001751866.1:n.1669+967_2058-679del
XR_933244.2:n.1669+967_2058-679del
XR_933245.2:n.1669+967_2058-679del
XR_933247.2:n.1669+967_2058-679del
NM_000135.4:c.1626+967_2015-679del
NM_001286167.3:c.1626+967_2015-679del