Canonical Allele Identifier: CA725767355

Gene: FANCA

Linked Data

• ClinVar Variation Id: 647752
• ClinVar RCV Id: RCV000802326 ; RCV003396401
• dbSNP Id: rs1186669727
• MyVariant Identifiers: chr16:g.89831336_89831337del (hg19) ; chr16:g.89764928_89764929del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89764933_89764934del , CM000678.2:g.89764933_89764934del	GRCh38
NC_000016.9:g.89831341_89831342del , CM000678.1:g.89831341_89831342del	GRCh37
NC_000016.8:g.88358842_88358843del	NCBI36
NG_011706.1:g.56729_56730del , LRG_495:g.56729_56730del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.*1233_*1234del	ENSP00000512522.1:n.*1233_*1234del
ENST00000564475.6:c.2739_2740del	ENSP00000454977.2:p.His913GlnfsTer29
ENST00000567510.2:c.1438_1439del	ENSP00000455969.1:n.1438_1439del
ENST00000568369.6:c.2739_2740del	ENSP00000456829.1:p.His913GlnfsTer29
ENST00000696274.1:n.2700_2701del
ENST00000696275.1:c.*1974_*1975del	ENSP00000512517.1:n.*1974_*1975del
ENST00000696276.1:n.2782_2783del
ENST00000696286.1:c.2739_2740del	ENSP00000512523.1:p.His913GlnfsTer29
ENST00000696287.1:c.2739_2740del	ENSP00000512524.1:p.His913GlnfsTer29
ENST00000696291.1:c.*2459_*2460del	ENSP00000512530.1:n.*2459_*2460del
ENST00000389301.8:c.2739_2740del MANE Select	ENSP00000373952.3:p.His913GlnfsTer29
ENST00000305699.15:n.111_112del
ENST00000389301.7:c.2739_2740del	ENSP00000373952.3:p.His913GlnfsTer29
ENST00000561660.1:c.116_117del
ENST00000563318.1:c.145_146del
ENST00000563510.5:c.19_20del
ENST00000567988.5:c.76_77del
ENST00000568369.5:c.2739_2740del	ENSP00000456829.1:p.His913GlnfsTer29
NM_000135.2:c.2739_2740del , LRG_495t1:c.2739_2740del	NP_000126.2:p.His913GlnfsTer29
NM_001286167.1:c.2739_2740del	NP_001273096.1:p.His913GlnfsTer29
XM_005256294.3:c.2739_2740del	XP_005256351.1:p.His913GlnfsTer29
XM_011522945.1:c.2739_2740del	XP_011521247.1:p.His913GlnfsTer29
XM_011522946.1:c.1716_1717del	XP_011521248.1:p.His572GlnfsTer29
XM_011522947.1:c.1716_1717del	XP_011521249.1:p.His572GlnfsTer29
XR_933244.1:n.2782_2783del
XR_933245.1:n.2782_2783del
XR_933246.1:n.2782_2783del
NM_000135.3:c.2739_2740del	NP_000126.2:p.His913GlnfsTer29
NM_001286167.2:c.2739_2740del	NP_001273096.1:p.His913GlnfsTer29
XM_005256294.4:c.2739_2740del	XP_005256351.1:p.His913GlnfsTer29
XM_011522945.2:c.2739_2740del	XP_011521247.1:p.His913GlnfsTer29
XM_011522946.3:c.1716_1717del	XP_011521248.1:p.His572GlnfsTer29
XM_011522947.2:c.1716_1717del	XP_011521249.1:p.His572GlnfsTer29
XM_017023044.2:c.2739_2740del	XP_016878533.1:p.His913GlnfsTer29
XM_017023045.1:c.2739_2740del	XP_016878534.1:p.His913GlnfsTer29
XM_024450189.1:c.1716_1717del	XP_024305957.1:p.His572GlnfsTer29
XR_001751866.1:n.2782_2783del
XR_933244.2:n.2782_2783del
XR_933245.2:n.2782_2783del
XR_933247.2:n.2911_2912del
NM_000135.4:c.2739_2740del MANE Select	NP_000126.2:p.His913GlnfsTer29
NM_001286167.3:c.2739_2740del	NP_001273096.1:p.His913GlnfsTer29