Canonical Allele Identifier: CA8250779

Gene: FANCA ZNF276

Linked Data

• ClinVar Variation Id: 552509
• ClinVar RCV Id: RCV000667783 ; RCV000731876 ; RCV001218261
• dbSNP Id: rs776969626
• ExAC: 16:89805582 CTG / C
• gnomAD v2: 16-89805582-CTG-C
• gnomAD v4: 16-89739174-CTG-C
• MyVariant Identifiers: chr16:g.89805583_89805584del (hg19) ; chr16:g.89739175_89739176del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89739177_89739178del , CM000678.2:g.89739177_89739178del	GRCh38
NC_000016.9:g.89805585_89805586del , CM000678.1:g.89805585_89805586del	GRCh37
NC_000016.8:g.88333086_88333087del	NCBI36
NG_011706.1:g.82482_82483del , LRG_495:g.82482_82483del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.*2697_*2698del (FANCA)	ENSP00000512522.1:n.*2697_*2698del
ENST00000564475.6:c.4124_4125del (FANCA)	ENSP00000454977.2:p.Thr1375SerfsTer22
ENST00000567510.2:c.2694_2695del (FANCA)	ENSP00000455969.1:n.2694_2695del
ENST00000568369.6:c.4124_4125del (FANCA)	ENSP00000456829.1:p.Thr1375SerfsTer22
ENST00000696274.1:n.4085_4086del (FANCA)
ENST00000696275.1:c.*3359_*3360del (FANCA)	ENSP00000512517.1:n.*3359_*3360del
ENST00000696286.1:c.*37_*38del (FANCA)	ENSP00000512523.1:n.*37_*38del
ENST00000696287.1:c.3995_3996del (FANCA)	ENSP00000512524.1:p.Thr1332SerfsTer22
ENST00000696291.1:c.*3556_*3557del (FANCA)	ENSP00000512530.1:n.*3556_*3557del
ENST00000389301.8:c.4124_4125del (FANCA) MANE Select	ENSP00000373952.3:p.Thr1375SerfsTer?
ENST00000443381.7:c.*931_*932del (ZNF276) MANE Select	ENSP00000415836.2:n.*931_*932del
ENST00000289816.9:c.*931_*932del (ZNF276)	ENSP00000289816.5:n.*931_*932del
ENST00000389301.7:c.4124_4125del (FANCA)	ENSP00000373952.3:p.Thr1375SerfsTer?
ENST00000561722.5:c.275_276del (FANCA)	ENSP00000456608.1:p.Thr92SerfsTer?
ENST00000562424.1:n.395_396del (FANCA)
ENST00000563983.5:n.2764_2765del (ZNF276)
ENST00000564475.5:c.454_455del (FANCA)
ENST00000564870.1:c.325_326del (FANCA)
ENST00000567879.5:c.503_504del (FANCA)	ENSP00000457006.1:p.Thr168SerfsTer19
ENST00000568369.5:c.4124_4125del (FANCA)	ENSP00000456829.1:p.Thr1375SerfsTer22
NM_000135.2:c.4124_4125del , LRG_495t1:c.4124_4125del (FANCA)	NP_000126.2:p.Thr1375SerfsTer?
NM_001113525.1:c.*931_*932del (ZNF276)	NP_001106997.1:n.*931_*932del
NM_001286167.1:c.4124_4125del (FANCA)	NP_001273096.1:p.Thr1375SerfsTer22
NM_152287.3:c.*931_*932del (ZNF276)	NP_689500.2:n.*931_*932del
NR_110122.1:n.2948_2949del (ZNF276)
NR_110126.1:n.2831_2832del (ZNF276)
NR_110128.1:n.2754_2755del (ZNF276)
NR_110129.1:n.2843_2844del (ZNF276)
XM_005256294.3:c.4124_4125del (FANCA)	XP_005256351.1:p.Thr1375SerfsTer22
XM_011522945.1:c.3995_3996del (FANCA)	XP_011521247.1:p.Thr1332SerfsTer22
XM_011522946.1:c.3101_3102del (FANCA)	XP_011521248.1:p.Thr1034SerfsTer22
XM_011522947.1:c.3101_3102del (FANCA)	XP_011521249.1:p.Thr1034SerfsTer22
XR_933244.1:n.4091_4092del (FANCA)
XR_933245.1:n.4028_4029del (FANCA)
NM_000135.3:c.4124_4125del (FANCA)	NP_000126.2:p.Thr1375SerfsTer?
NM_001286167.2:c.4124_4125del (FANCA)	NP_001273096.1:p.Thr1375SerfsTer22
XM_005256294.4:c.4124_4125del (FANCA)	XP_005256351.1:p.Thr1375SerfsTer22
XM_011522945.2:c.3995_3996del (FANCA)	XP_011521247.1:p.Thr1332SerfsTer22
XM_011522946.3:c.3101_3102del (FANCA)	XP_011521248.1:p.Thr1034SerfsTer22
XM_011522947.2:c.3101_3102del (FANCA)	XP_011521249.1:p.Thr1034SerfsTer22
XM_017023044.2:c.3995_3996del (FANCA)	XP_016878533.1:p.Thr1332SerfsTer?
XM_017023890.1:c.*931_*932del (ZNF276)	XP_016879379.1:n.*931_*932del
XM_024450189.1:c.3101_3102del (FANCA)	XP_024305957.1:p.Thr1034SerfsTer22
XR_933244.2:n.4091_4092del (FANCA)
XR_933245.2:n.4028_4029del (FANCA)
XR_933484.2:n.2942_2943del (ZNF276)
NM_000135.4:c.4124_4125del (FANCA) MANE Select	NP_000126.2:p.Thr1375SerfsTer?
NM_001113525.2:c.*931_*932del (ZNF276) MANE Select	NP_001106997.1:n.*931_*932del
NM_001286167.3:c.4124_4125del (FANCA)	NP_001273096.1:p.Thr1375SerfsTer22
NM_152287.4:c.*931_*932del (ZNF276)	NP_689500.2:n.*931_*932del
NR_110122.2:n.2931_2932del (ZNF276)
NR_110126.2:n.2814_2815del (ZNF276)
NR_110129.2:n.2848_2849del (ZNF276)
NR_110128.2:n.2754_2755del (ZNF276)