Canonical Allele Identifier: CA8250756

Gene: FANCA ZNF276

Linked Data

• dbSNP Id: rs768765651
• ExAC: 16:89805506 G / GCTCCCCTGGAGGTGGGAC
• gnomAD v2: 16-89805506-G-GCTCCCCTGGAGGTGGGAC
• gnomAD v4: 16-89739098-G-GCTCCCCTGGAGGTGGGAC
• MyVariant Identifiers: chr16:g.89805506_89805507insCTCCCCTGGAGGTGGGAC (hg19) ; chr16:g.89739098_89739099insCTCCCCTGGAGGTGGGAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89739099_89739116dup , CM000678.2:g.89739099_89739116dup	GRCh38
NC_000016.9:g.89805507_89805524dup , CM000678.1:g.89805507_89805524dup	GRCh37
NC_000016.8:g.88333008_88333025dup	NCBI36
NG_011706.1:g.82542_82559dup , LRG_495:g.82542_82559dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.*2740+17_*2740+34dup (FANCA)	ENSP00000512522.1:n.*2740+17_*2740+34dup
ENST00000564475.6:c.4171+13_4171+30dup (FANCA)	ENSP00000454977.2:n.4171+13_4171+30dup
ENST00000567510.2:c.2741+13_2741+30dup (FANCA)	ENSP00000455969.1:n.2741+13_2741+30dup
ENST00000568369.6:c.4171+13_4171+30dup (FANCA)	ENSP00000456829.1:n.4171+13_4171+30dup
ENST00000696274.1:n.4128+17_4128+34dup (FANCA)
ENST00000696275.1:c.*3406+13_*3406+30dup (FANCA)	ENSP00000512517.1:n.*3406+13_*3406+30dup
ENST00000696286.1:c.*80+17_*80+34dup (FANCA)	ENSP00000512523.1:n.*80+17_*80+34dup
ENST00000696287.1:c.4042+13_4042+30dup (FANCA)	ENSP00000512524.1:n.4042+13_4042+30dup
ENST00000696291.1:c.*3599+17_*3599+34dup (FANCA)	ENSP00000512530.1:n.*3599+17_*3599+34dup
ENST00000389301.8:c.4167+17_4167+34dup (FANCA) MANE Select	ENSP00000373952.3:n.4167+17_4167+34dup
ENST00000443381.7:c.*853_*870dup (ZNF276) MANE Select	ENSP00000415836.2:n.*853_*870dup
ENST00000289816.9:c.*853_*870dup (ZNF276)	ENSP00000289816.5:n.*853_*870dup
ENST00000389301.7:c.4167+17_4167+34dup (FANCA)	ENSP00000373952.3:n.4167+17_4167+34dup
ENST00000561722.5:c.335_352dup (FANCA)	ENSP00000456608.1:p.Gly117_Ala118insGlyProThrSerArgGly
ENST00000562424.1:n.438+17_438+34dup (FANCA)
ENST00000563983.5:n.2686_2703dup (ZNF276)
ENST00000564475.5:c.501+13_501+30dup (FANCA)
ENST00000564870.1:c.368+17_368+34dup (FANCA)
ENST00000567879.5:c.541+22_541+39dup (FANCA)	ENSP00000457006.1:n.541+22_541+39dup
ENST00000568369.5:c.4171+13_4171+30dup (FANCA)	ENSP00000456829.1:n.4171+13_4171+30dup
NM_000135.2:c.4167+17_4167+34dup , LRG_495t1:c.4167+17_4167+34dup (FANCA)	NP_000126.2:n.4167+17_4167+34dup
NM_001113525.1:c.*853_*870dup (ZNF276)	NP_001106997.1:n.*853_*870dup
NM_001286167.1:c.4171+13_4171+30dup (FANCA)	NP_001273096.1:n.4171+13_4171+30dup
NM_152287.3:c.*853_*870dup (ZNF276)	NP_689500.2:n.*853_*870dup
NR_110122.1:n.2870_2887dup (ZNF276)
NR_110126.1:n.2753_2770dup (ZNF276)
NR_110128.1:n.2676_2693dup (ZNF276)
NR_110129.1:n.2765_2782dup (ZNF276)
XM_005256294.3:c.4171+13_4171+30dup (FANCA)	XP_005256351.1:n.4171+13_4171+30dup
XM_011522945.1:c.4042+13_4042+30dup (FANCA)	XP_011521247.1:n.4042+13_4042+30dup
XM_011522946.1:c.3148+13_3148+30dup (FANCA)	XP_011521248.1:n.3148+13_3148+30dup
XM_011522947.1:c.3148+13_3148+30dup (FANCA)	XP_011521249.1:n.3148+13_3148+30dup
XR_933244.1:n.4134+17_4134+34dup (FANCA)
XR_933245.1:n.4071+17_4071+34dup (FANCA)
NM_000135.3:c.4167+17_4167+34dup (FANCA)	NP_000126.2:n.4167+17_4167+34dup
NM_001286167.2:c.4171+13_4171+30dup (FANCA)	NP_001273096.1:n.4171+13_4171+30dup
XM_005256294.4:c.4171+13_4171+30dup (FANCA)	XP_005256351.1:n.4171+13_4171+30dup
XM_011522945.2:c.4042+13_4042+30dup (FANCA)	XP_011521247.1:n.4042+13_4042+30dup
XM_011522946.3:c.3148+13_3148+30dup (FANCA)	XP_011521248.1:n.3148+13_3148+30dup
XM_011522947.2:c.3148+13_3148+30dup (FANCA)	XP_011521249.1:n.3148+13_3148+30dup
XM_017023044.2:c.4038+17_4038+34dup (FANCA)	XP_016878533.1:n.4038+17_4038+34dup
XM_017023890.1:c.*853_*870dup (ZNF276)	XP_016879379.1:n.*853_*870dup
XM_024450189.1:c.3148+13_3148+30dup (FANCA)	XP_024305957.1:n.3148+13_3148+30dup
XR_933244.2:n.4134+17_4134+34dup (FANCA)
XR_933245.2:n.4071+17_4071+34dup (FANCA)
XR_933484.2:n.2864_2881dup (ZNF276)
NM_000135.4:c.4167+17_4167+34dup (FANCA) MANE Select	NP_000126.2:n.4167+17_4167+34dup
NM_001113525.2:c.*853_*870dup (ZNF276) MANE Select	NP_001106997.1:n.*853_*870dup
NM_001286167.3:c.4171+13_4171+30dup (FANCA)	NP_001273096.1:n.4171+13_4171+30dup
NM_152287.4:c.*853_*870dup (ZNF276)	NP_689500.2:n.*853_*870dup
NR_110122.2:n.2853_2870dup (ZNF276)
NR_110126.2:n.2736_2753dup (ZNF276)
NR_110129.2:n.2770_2787dup (ZNF276)
NR_110128.2:n.2676_2693dup (ZNF276)