Canonical Allele Identifier: CA286617244

Gene: FANCA ZNF276

Linked Data

• ClinVar Variation Id: 550150
• ClinVar RCV Id: RCV000664816 ; RCV000815813 ; RCV001816666
• dbSNP Id: rs927201841
• gnomAD v2: 16-89805934-CGGA-C
• gnomAD v3: 16-89739526-CGGA-C
• gnomAD v4: 16-89739526-CGGA-C
• COSMIC: COSM435945
• MyVariant Identifiers: chr16:g.89805935_89805937del (hg19) ; chr16:g.89739527_89739529del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89739534_89739536del , CM000678.2:g.89739534_89739536del	GRCh38
NC_000016.9:g.89805942_89805944del , CM000678.1:g.89805942_89805944del	GRCh37
NC_000016.8:g.88333443_88333445del	NCBI36
NG_011706.1:g.82129_82131del , LRG_495:g.82129_82131del

Transcript Alleles

HGVS	Amino-acid change
ENST00000561667.2:c.*2532_*2534del (FANCA)	ENSP00000512522.1:n.*2532_*2534del
ENST00000564475.6:c.3959_3961del (FANCA)	ENSP00000454977.2:p.Leu1320del
ENST00000567510.2:c.2529_2531del (FANCA)	ENSP00000455969.1:n.2529_2531del
ENST00000568369.6:c.3959_3961del (FANCA)	ENSP00000456829.1:p.Leu1320del
ENST00000696274.1:n.3920_3922del (FANCA)
ENST00000696275.1:c.*3194_*3196del (FANCA)	ENSP00000512517.1:n.*3194_*3196del
ENST00000696286.1:c.3935-240_3935-238del (FANCA)	ENSP00000512523.1:n.3935-240_3935-238del
ENST00000696287.1:c.3830_3832del (FANCA)	ENSP00000512524.1:p.Leu1277del
ENST00000696291.1:c.*3391_*3393del (FANCA)	ENSP00000512530.1:n.*3391_*3393del
ENST00000389301.8:c.3959_3961del (FANCA) MANE Select	ENSP00000373952.3:p.Leu1320del
ENST00000443381.7:c.*1288_*1290del (ZNF276) MANE Select	ENSP00000415836.2:n.*1288_*1290del
ENST00000289816.9:c.*1288_*1290del (ZNF276)	ENSP00000289816.5:n.*1288_*1290del
ENST00000389301.7:c.3959_3961del (FANCA)	ENSP00000373952.3:p.Leu1320del
ENST00000561722.5:c.110_112del (FANCA)	ENSP00000456608.1:p.Leu37del
ENST00000562424.1:n.230_232del (FANCA)
ENST00000563983.5:n.3121_3123del (ZNF276)
ENST00000564475.5:c.289_291del (FANCA)
ENST00000564870.1:c.160_162del (FANCA)
ENST00000564969.5:n.684_686del (FANCA)
ENST00000567879.5:c.413-263_413-261del (FANCA)	ENSP00000457006.1:n.413-263_413-261del
ENST00000568369.5:c.3959_3961del (FANCA)	ENSP00000456829.1:p.Leu1320del
ENST00000568626.1:c.668_670del (FANCA)
NM_000135.2:c.3959_3961del , LRG_495t1:c.3959_3961del (FANCA)	NP_000126.2:p.Leu1320del
NM_001113525.1:c.*1288_*1290del (ZNF276)	NP_001106997.1:n.*1288_*1290del
NM_001286167.1:c.3959_3961del (FANCA)	NP_001273096.1:p.Leu1320del
NM_152287.3:c.*1288_*1290del (ZNF276)	NP_689500.2:n.*1288_*1290del
NR_110122.1:n.3305_3307del (ZNF276)
NR_110126.1:n.3188_3190del (ZNF276)
NR_110128.1:n.3111_3113del (ZNF276)
NR_110129.1:n.3200_3202del (ZNF276)
XM_005256294.3:c.3959_3961del (FANCA)	XP_005256351.1:p.Leu1320del
XM_011522945.1:c.3830_3832del (FANCA)	XP_011521247.1:p.Leu1277del
XM_011522946.1:c.2936_2938del (FANCA)	XP_011521248.1:p.Leu979del
XM_011522947.1:c.2936_2938del (FANCA)	XP_011521249.1:p.Leu979del
XR_933244.1:n.3978-240_3978-238del (FANCA)
XR_933245.1:n.3863_3865del (FANCA)
NM_000135.3:c.3959_3961del (FANCA)	NP_000126.2:p.Leu1320del
NM_001286167.2:c.3959_3961del (FANCA)	NP_001273096.1:p.Leu1320del
XM_005256294.4:c.3959_3961del (FANCA)	XP_005256351.1:p.Leu1320del
XM_011522945.2:c.3830_3832del (FANCA)	XP_011521247.1:p.Leu1277del
XM_011522946.3:c.2936_2938del (FANCA)	XP_011521248.1:p.Leu979del
XM_011522947.2:c.2936_2938del (FANCA)	XP_011521249.1:p.Leu979del
XM_017023044.2:c.3830_3832del (FANCA)	XP_016878533.1:p.Leu1277del
XM_017023890.1:c.*1288_*1290del (ZNF276)	XP_016879379.1:n.*1288_*1290del
XM_024450189.1:c.2936_2938del (FANCA)	XP_024305957.1:p.Leu979del
XR_001751866.1:n.3829_3831del (FANCA)
XR_933244.2:n.3978-240_3978-238del (FANCA)
XR_933245.2:n.3863_3865del (FANCA)
XR_933484.2:n.3299_3301del (ZNF276)
NM_000135.4:c.3959_3961del (FANCA) MANE Select	NP_000126.2:p.Leu1320del
NM_001113525.2:c.*1288_*1290del (ZNF276) MANE Select	NP_001106997.1:n.*1288_*1290del
NM_001286167.3:c.3959_3961del (FANCA)	NP_001273096.1:p.Leu1320del
NM_152287.4:c.*1288_*1290del (ZNF276)	NP_689500.2:n.*1288_*1290del
NR_110122.2:n.3288_3290del (ZNF276)
NR_110126.2:n.3171_3173del (ZNF276)
NR_110129.2:n.3205_3207del (ZNF276)
NR_110128.2:n.3111_3113del (ZNF276)