Canonical Allele Identifier: CA725764708

Gene: FANCA

Linked Data

• ClinVar Variation Id: 2145973
• ClinVar RCV Id: RCV003066892 ; RCV003465943
• dbSNP Id: rs1424006580
• gnomAD v3: 16-89761947-A-AC
• gnomAD v4: 16-89761947-A-AC
• MyVariant Identifiers: chr16:g.89828355_89828356insC (hg19) ; chr16:g.89761947_89761948insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89761949dup , CM000678.2:g.89761949dup	GRCh38
NC_000016.9:g.89828357dup , CM000678.1:g.89828357dup	GRCh37
NC_000016.8:g.88355858dup	NCBI36
NG_011706.1:g.59710dup , LRG_495:g.59710dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000561667.2:c.*1459+1dup
ENST00000564475.6:c.2852+1dup
ENST00000567510.2:c.1551+1dup
ENST00000568369.6:c.2852+1dup
ENST00000696274.1:n.2813+1dup
ENST00000696275.1:c.*2087+1dup
ENST00000696276.1:n.2895+1dup
ENST00000696286.1:c.2852+1dup
ENST00000696287.1:c.2852+1dup
ENST00000696291.1:c.*2498+2942dup	ENSP00000512530.1:n.*2498+2942dup
ENST00000389301.8:c.2852+1dup
ENST00000305699.15:n.224+1dup
ENST00000389301.7:c.2852+1dup
ENST00000561660.1:c.229+1dup
ENST00000563318.1:c.414+1dup
ENST00000563510.5:c.371+1dup
ENST00000567988.5:c.189+1dup
ENST00000568369.5:c.2852+1dup
NM_000135.2:c.2852+1dup , LRG_495t1:c.2852+1dup
NM_001286167.1:c.2852+1dup
XM_005256294.3:c.2852+1dup
XM_011522945.1:c.2852+1dup
XM_011522946.1:c.1829+1dup
XM_011522947.1:c.1829+1dup
XR_933244.1:n.2895+1dup
XR_933245.1:n.2895+1dup
XR_933246.1:n.2895+1dup
NM_000135.3:c.2852+1dup
NM_001286167.2:c.2852+1dup
XM_005256294.4:c.2852+1dup
XM_011522945.2:c.2852+1dup
XM_011522946.3:c.1829+1dup
XM_011522947.2:c.1829+1dup
XM_017023044.2:c.2852+1dup
XM_017023045.1:c.2852+1dup
XM_024450189.1:c.1829+1dup
XR_001751866.1:n.2895+1dup
XR_933244.2:n.2895+1dup
XR_933245.2:n.2895+1dup
NM_000135.4:c.2852+1dup
NM_001286167.3:c.2852+1dup