Canonical Allele Identifier: CA1139664979
Gene: FANCA HGNC NCBI

Linked Data

ClinVar Variation Id: 973979
ClinVar RCV Id: RCV001256209

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89805989_89815112del , CM000678.2:g.89805989_89815112del GRCh38
NC_000016.9:g.89872397_89881520del , CM000678.1:g.89872397_89881520del GRCh37
NC_000016.8:g.88399898_88409021del NCBI36
NG_011706.1:g.6551_15674del , LRG_495:g.6551_15674del

Transcript Alleles

HGVS Amino-acid Change
ENST00000561667.2:c.190-494_597-592del
ENST00000563767.2:n.25-494_432-592del
ENST00000564475.6:c.190-494_597-592del
ENST00000567205.2:c.190-494_597-592del
ENST00000567284.7:n.233-494_640-592del
ENST00000567621.6:c.190-494_597-592del
ENST00000568369.6:c.190-494_597-592del
ENST00000696275.1:c.190-494_597-592del
ENST00000696276.1:n.233-494_640-592del
ENST00000696277.1:c.190-494_597-592del
ENST00000696286.1:c.190-494_597-592del
ENST00000696287.1:c.190-494_597-592del
ENST00000696288.1:c.25-494_628-592del
ENST00000696291.1:c.190-494_523-592del
ENST00000696292.1:c.25-494_462-592del
ENST00000696293.1:c.25-472_454-592del
ENST00000696294.1:c.25-494_432-592del
ENST00000696295.1:c.25-494_432-592del
ENST00000696296.1:c.25-494_432-592del
ENST00000389301.8:c.190-494_597-592del
ENST00000389301.7:c.190-494_597-592del
ENST00000389302.7:c.190-494_597-592del
ENST00000534992.5:c.190-494_597-592del
ENST00000543736.5:c.190-494_501-592del
ENST00000563673.5:c.190-494_597-592del
ENST00000565582.5:c.103-494_510-592del
ENST00000566889.5:n.772-494_1179-592del
ENST00000568369.5:c.190-494_597-592del
NM_000135.2:c.190-494_597-592del , LRG_495t1:c.190-494_597-592del
NM_001018112.1:c.190-494_597-592del
NM_001286167.1:c.190-494_597-592del
XM_005256294.3:c.190-494_597-592del
XM_011522945.1:c.190-494_597-592del
XM_011522948.1:c.190-494_597-592del
XR_933244.1:n.233-494_640-592del
XR_933245.1:n.233-494_640-592del
XR_933246.1:n.233-494_640-592del
XR_933247.1:n.233-494_640-592del
NM_000135.3:c.190-494_597-592del
NM_001018112.2:c.190-494_597-592del
NM_001286167.2:c.190-494_597-592del
NM_001351830.1:c.190-494_501-592del
XM_005256294.4:c.190-494_597-592del
XM_011522945.2:c.190-494_597-592del
XM_011522946.3:c.-963-494_-556-592del
XM_011522948.2:c.190-494_597-592del
XM_017023044.2:c.190-494_597-592del
XM_017023045.1:c.190-494_597-592del
XM_017023046.1:c.190-494_597-592del
XR_001751866.1:n.233-494_640-592del
XR_001751867.1:n.233-494_640-592del
XR_001751868.2:n.233-494_640-592del
XR_002957793.1:n.233-494_640-592del
XR_933244.2:n.233-494_640-592del
XR_933245.2:n.233-494_640-592del
XR_933247.2:n.233-494_640-592del
NM_000135.4:c.190-494_597-592del
NM_001018112.3:c.190-494_597-592del
NM_001286167.3:c.190-494_597-592del
NM_001351830.2:c.190-494_501-592del