Canonical Allele Identifier: CA624274781

Gene: FANCA

Linked Data

• ClinVar Variation Id: 915871
• ClinVar RCV Id: RCV001255874
• dbSNP Id: rs1363946483
• gnomAD v2: 16-89880969-TCA-T
• gnomAD v3: 16-89814561-TCA-T
• gnomAD v4: 16-89814561-TCA-T
• MyVariant Identifiers: chr16:g.89880970_89880971del (hg19) ; chr16:g.89814562_89814563del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89814564_89814565del , CM000678.2:g.89814564_89814565del	GRCh38
NC_000016.9:g.89880972_89880973del , CM000678.1:g.89880972_89880973del	GRCh37
NC_000016.8:g.88408473_88408474del	NCBI36
NG_011706.1:g.7095_7096del , LRG_495:g.7095_7096del

Transcript Alleles

HGVS	Amino-acid change
ENST00000561667.2:c.240_241del	ENSP00000512522.1:p.Cys80Ter
ENST00000563767.2:n.75_76del
ENST00000564475.6:c.240_241del	ENSP00000454977.2:p.Cys80Ter
ENST00000567205.2:c.240_241del	ENSP00000457027.2:p.Cys80Ter
ENST00000567284.7:n.283_284del
ENST00000567621.6:c.240_241del	ENSP00000456762.2:p.Cys80Ter
ENST00000568369.6:c.240_241del	ENSP00000456829.1:p.Cys80Ter
ENST00000696275.1:c.240_241del	ENSP00000512517.1:p.Cys80Ter
ENST00000696276.1:n.283_284del
ENST00000696277.1:c.240_241del	ENSP00000512518.1:p.Cys80Ter
ENST00000696286.1:c.240_241del	ENSP00000512523.1:p.Cys80Ter
ENST00000696287.1:c.240_241del	ENSP00000512524.1:p.Cys80Ter
ENST00000696288.1:c.75_76del	ENSP00000512525.1:p.Cys25Ter
ENST00000696291.1:c.240_241del	ENSP00000512530.1:p.Cys80Ter
ENST00000696292.1:c.75_76del	ENSP00000512531.1:p.Cys25Ter
ENST00000696293.1:c.97_98del	ENSP00000512532.1:n.97_98del
ENST00000696294.1:c.75_76del	ENSP00000512533.1:p.Cys25Ter
ENST00000696295.1:c.75_76del	ENSP00000512534.1:p.Cys25Ter
ENST00000696296.1:c.75_76del	ENSP00000512535.1:p.Cys25Ter
ENST00000389301.8:c.240_241del MANE Select	ENSP00000373952.3:p.Cys80Ter
ENST00000389301.7:c.240_241del	ENSP00000373952.3:p.Cys80Ter
ENST00000389302.7:c.240_241del	ENSP00000373953.3:p.Cys80Ter
ENST00000534992.5:c.240_241del	ENSP00000443675.1:p.Cys80Ter
ENST00000543736.5:c.240_241del	ENSP00000443409.1:p.Cys80Ter
ENST00000563513.1:c.240_241del	ENSP00000455946.1:p.Cys80Ter
ENST00000563673.5:c.240_241del	ENSP00000456443.1:p.Cys80Ter
ENST00000565582.5:c.153_154del	ENSP00000456722.1:p.Cys51Ter
ENST00000566889.5:n.822_823del
ENST00000567883.5:n.233_234del
ENST00000567943.1:c.*220_*221del	ENSP00000455941.1:n.*220_*221del
ENST00000568369.5:c.240_241del	ENSP00000456829.1:p.Cys80Ter
NM_000135.2:c.240_241del , LRG_495t1:c.240_241del	NP_000126.2:p.Cys80Ter
NM_001018112.1:c.240_241del	NP_001018122.1:p.Cys80Ter
NM_001286167.1:c.240_241del	NP_001273096.1:p.Cys80Ter
XM_005256294.3:c.240_241del	XP_005256351.1:p.Cys80Ter
XM_011522945.1:c.240_241del	XP_011521247.1:p.Cys80Ter
XM_011522948.1:c.240_241del	XP_011521250.1:p.Cys80Ter
XR_933244.1:n.283_284del
XR_933245.1:n.283_284del
XR_933246.1:n.283_284del
XR_933247.1:n.283_284del
NM_000135.3:c.240_241del	NP_000126.2:p.Cys80Ter
NM_001018112.2:c.240_241del	NP_001018122.1:p.Cys80Ter
NM_001286167.2:c.240_241del	NP_001273096.1:p.Cys80Ter
NM_001351830.1:c.240_241del	NP_001338759.1:p.Cys80Ter
XM_005256294.4:c.240_241del	XP_005256351.1:p.Cys80Ter
XM_011522945.2:c.240_241del	XP_011521247.1:p.Cys80Ter
XM_011522946.3:c.-913_-912del	XP_011521248.1:n.-913_-912del
XM_011522948.2:c.240_241del	XP_011521250.1:p.Cys80Ter
XM_017023044.2:c.240_241del	XP_016878533.1:p.Cys80Ter
XM_017023045.1:c.240_241del	XP_016878534.1:p.Cys80Ter
XM_017023046.1:c.240_241del	XP_016878535.1:p.Cys80Ter
XR_001751866.1:n.283_284del
XR_001751867.1:n.283_284del
XR_001751868.2:n.283_284del
XR_002957793.1:n.283_284del
XR_933244.2:n.283_284del
XR_933245.2:n.283_284del
XR_933247.2:n.283_284del
NM_000135.4:c.240_241del MANE Select	NP_000126.2:p.Cys80Ter
NM_001018112.3:c.240_241del	NP_001018122.1:p.Cys80Ter
NM_001286167.3:c.240_241del	NP_001273096.1:p.Cys80Ter
NM_001351830.2:c.240_241del	NP_001338759.1:p.Cys80Ter