Canonical Allele Identifier: CA8250739

Gene: FANCA ZNF276

Linked Data

• dbSNP Id: rs780301799
• ExAC: 16:89805494 C / CA
• gnomAD v2: 16-89805494-C-CA
• gnomAD v3: 16-89739086-C-CA
• gnomAD v4: 16-89739086-C-CA
• MyVariant Identifiers: chr16:g.89805494_89805495insA (hg19) ; chr16:g.89739086_89739087insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89739086_89739087insA , CM000678.2:g.89739086_89739087insA	GRCh38
NC_000016.9:g.89805494_89805495insA , CM000678.1:g.89805494_89805495insA	GRCh37
NC_000016.8:g.88332995_88332996insA	NCBI36
NG_011706.1:g.82571_82572insT , LRG_495:g.82571_82572insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.*2740+46_*2740+47insT (FANCA)	ENSP00000512522.1:n.*2740+46_*2740+47insT
ENST00000564475.6:c.4171+42_4171+43insT (FANCA)	ENSP00000454977.2:n.4171+42_4171+43insT
ENST00000567510.2:c.2741+42_2741+43insT (FANCA)	ENSP00000455969.1:n.2741+42_2741+43insT
ENST00000568369.6:c.4171+42_4171+43insT (FANCA)	ENSP00000456829.1:n.4171+42_4171+43insT
ENST00000696274.1:n.4128+46_4128+47insT (FANCA)
ENST00000696275.1:c.*3406+42_*3406+43insT (FANCA)	ENSP00000512517.1:n.*3406+42_*3406+43insT
ENST00000696286.1:c.*80+46_*80+47insT (FANCA)	ENSP00000512523.1:n.*80+46_*80+47insT
ENST00000696287.1:c.4042+42_4042+43insT (FANCA)	ENSP00000512524.1:n.4042+42_4042+43insT
ENST00000696291.1:c.*3599+46_*3599+47insT (FANCA)	ENSP00000512530.1:n.*3599+46_*3599+47insT
ENST00000389301.8:c.4167+46_4167+47insT (FANCA) MANE Select	ENSP00000373952.3:n.4167+46_4167+47insT
ENST00000443381.7:c.*840_*841insA (ZNF276) MANE Select	ENSP00000415836.2:n.*840_*841insA
ENST00000289816.9:c.*840_*841insA (ZNF276)	ENSP00000289816.5:n.*840_*841insA
ENST00000389301.7:c.4167+46_4167+47insT (FANCA)	ENSP00000373952.3:n.4167+46_4167+47insT
ENST00000561722.5:c.364_365insT (FANCA)	ENSP00000456608.1:p.Arg122LeufsTer?
ENST00000562424.1:n.438+46_438+47insT (FANCA)
ENST00000563983.5:n.2673_2674insA (ZNF276)
ENST00000564475.5:c.501+42_501+43insT (FANCA)
ENST00000564870.1:c.368+46_368+47insT (FANCA)
ENST00000567879.5:c.541+51_541+52insT (FANCA)	ENSP00000457006.1:n.541+51_541+52insT
ENST00000568369.5:c.4171+42_4171+43insT (FANCA)	ENSP00000456829.1:n.4171+42_4171+43insT
NM_000135.2:c.4167+46_4167+47insT , LRG_495t1:c.4167+46_4167+47insT (FANCA)	NP_000126.2:n.4167+46_4167+47insT
NM_001113525.1:c.*840_*841insA (ZNF276)	NP_001106997.1:n.*840_*841insA
NM_001286167.1:c.4171+42_4171+43insT (FANCA)	NP_001273096.1:n.4171+42_4171+43insT
NM_152287.3:c.*840_*841insA (ZNF276)	NP_689500.2:n.*840_*841insA
NR_110122.1:n.2857_2858insA (ZNF276)
NR_110126.1:n.2740_2741insA (ZNF276)
NR_110128.1:n.2663_2664insA (ZNF276)
NR_110129.1:n.2752_2753insA (ZNF276)
XM_005256294.3:c.4171+42_4171+43insT (FANCA)	XP_005256351.1:n.4171+42_4171+43insT
XM_011522945.1:c.4042+42_4042+43insT (FANCA)	XP_011521247.1:n.4042+42_4042+43insT
XM_011522946.1:c.3148+42_3148+43insT (FANCA)	XP_011521248.1:n.3148+42_3148+43insT
XM_011522947.1:c.3148+42_3148+43insT (FANCA)	XP_011521249.1:n.3148+42_3148+43insT
XR_933244.1:n.4134+46_4134+47insT (FANCA)
XR_933245.1:n.4071+46_4071+47insT (FANCA)
NM_000135.3:c.4167+46_4167+47insT (FANCA)	NP_000126.2:n.4167+46_4167+47insT
NM_001286167.2:c.4171+42_4171+43insT (FANCA)	NP_001273096.1:n.4171+42_4171+43insT
XM_005256294.4:c.4171+42_4171+43insT (FANCA)	XP_005256351.1:n.4171+42_4171+43insT
XM_011522945.2:c.4042+42_4042+43insT (FANCA)	XP_011521247.1:n.4042+42_4042+43insT
XM_011522946.3:c.3148+42_3148+43insT (FANCA)	XP_011521248.1:n.3148+42_3148+43insT
XM_011522947.2:c.3148+42_3148+43insT (FANCA)	XP_011521249.1:n.3148+42_3148+43insT
XM_017023044.2:c.4038+46_4038+47insT (FANCA)	XP_016878533.1:n.4038+46_4038+47insT
XM_017023890.1:c.*840_*841insA (ZNF276)	XP_016879379.1:n.*840_*841insA
XM_024450189.1:c.3148+42_3148+43insT (FANCA)	XP_024305957.1:n.3148+42_3148+43insT
XR_933244.2:n.4134+46_4134+47insT (FANCA)
XR_933245.2:n.4071+46_4071+47insT (FANCA)
XR_933484.2:n.2851_2852insA (ZNF276)
NM_000135.4:c.4167+46_4167+47insT (FANCA) MANE Select	NP_000126.2:n.4167+46_4167+47insT
NM_001113525.2:c.*840_*841insA (ZNF276) MANE Select	NP_001106997.1:n.*840_*841insA
NM_001286167.3:c.4171+42_4171+43insT (FANCA)	NP_001273096.1:n.4171+42_4171+43insT
NM_152287.4:c.*840_*841insA (ZNF276)	NP_689500.2:n.*840_*841insA
NR_110122.2:n.2840_2841insA (ZNF276)
NR_110126.2:n.2723_2724insA (ZNF276)
NR_110129.2:n.2757_2758insA (ZNF276)
NR_110128.2:n.2663_2664insA (ZNF276)