Canonical Allele Identifier: CA2241889452

Gene: FANCA ZNF276

Linked Data

• ClinVar Variation Id: 1045251
• ClinVar RCV Id: RCV001349630
• dbSNP Id: rs2062046121

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89738957dup , CM000678.2:g.89738957dup	GRCh38
NC_000016.9:g.89805365dup , CM000678.1:g.89805365dup	GRCh37
NC_000016.8:g.88332866dup	NCBI36
NG_011706.1:g.82701dup , LRG_495:g.82701dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.*2758dup (FANCA)	ENSP00000512522.1:n.*2758dup
ENST00000564475.6:c.4189dup (FANCA)	ENSP00000454977.2:p.Asp1397GlyfsTer2
ENST00000567510.2:c.2759dup (FANCA)	ENSP00000455969.1:n.2759dup
ENST00000568369.6:c.4189dup (FANCA)	ENSP00000456829.1:p.Asp1397GlyfsTer2
ENST00000696274.1:n.4146dup (FANCA)
ENST00000696275.1:c.*3424dup (FANCA)	ENSP00000512517.1:n.*3424dup
ENST00000696286.1:c.*98dup (FANCA)	ENSP00000512523.1:n.*98dup
ENST00000696287.1:c.4060dup (FANCA)	ENSP00000512524.1:p.Asp1354GlyfsTer2
ENST00000696291.1:c.*3617dup (FANCA)	ENSP00000512530.1:n.*3617dup
ENST00000389301.8:c.4185dup (FANCA) MANE Select	ENSP00000373952.3:p.Ile1396AspfsTer29
ENST00000443381.7:c.*711dup (ZNF276) MANE Select	ENSP00000415836.2:n.*711dup
ENST00000289816.9:c.*711dup (ZNF276)	ENSP00000289816.5:n.*711dup
ENST00000389301.7:c.4185dup (FANCA)	ENSP00000373952.3:p.Ile1396AspfsTer29
ENST00000561722.5:c.436-31dup (FANCA)	ENSP00000456608.1:n.436-31dup
ENST00000562424.1:n.456dup (FANCA)
ENST00000563983.5:n.2544dup (ZNF276)
ENST00000564475.5:c.519dup (FANCA)
ENST00000564870.1:c.386dup (FANCA)
ENST00000567879.5:c.559dup (FANCA)	ENSP00000457006.1:p.Asp187GlyfsTer2
ENST00000568369.5:c.4189dup (FANCA)	ENSP00000456829.1:p.Asp1397GlyfsTer2
NM_000135.2:c.4185dup , LRG_495t1:c.4185dup (FANCA)	NP_000126.2:p.Ile1396AspfsTer29
NM_001113525.1:c.*711dup (ZNF276)	NP_001106997.1:n.*711dup
NM_001286167.1:c.4189dup (FANCA)	NP_001273096.1:p.Asp1397GlyfsTer2
NM_152287.3:c.*711dup (ZNF276)	NP_689500.2:n.*711dup
NR_110122.1:n.2728dup (ZNF276)
NR_110126.1:n.2611dup (ZNF276)
NR_110128.1:n.2534dup (ZNF276)
NR_110129.1:n.2623dup (ZNF276)
XM_005256294.3:c.4189dup (FANCA)	XP_005256351.1:p.Asp1397GlyfsTer2
XM_011522945.1:c.4060dup (FANCA)	XP_011521247.1:p.Asp1354GlyfsTer2
XM_011522946.1:c.3166dup (FANCA)	XP_011521248.1:p.Asp1056GlyfsTer2
XM_011522947.1:c.3166dup (FANCA)	XP_011521249.1:p.Asp1056GlyfsTer2
XR_933244.1:n.4152dup (FANCA)
XR_933245.1:n.4089dup (FANCA)
NM_000135.3:c.4185dup (FANCA)	NP_000126.2:p.Ile1396AspfsTer29
NM_001286167.2:c.4189dup (FANCA)	NP_001273096.1:p.Asp1397GlyfsTer2
XM_005256294.4:c.4189dup (FANCA)	XP_005256351.1:p.Asp1397GlyfsTer2
XM_011522945.2:c.4060dup (FANCA)	XP_011521247.1:p.Asp1354GlyfsTer2
XM_011522946.3:c.3166dup (FANCA)	XP_011521248.1:p.Asp1056GlyfsTer2
XM_011522947.2:c.3166dup (FANCA)	XP_011521249.1:p.Asp1056GlyfsTer2
XM_017023044.2:c.4056dup (FANCA)	XP_016878533.1:p.Ile1353AspfsTer29
XM_017023890.1:c.*711dup (ZNF276)	XP_016879379.1:n.*711dup
XM_024450189.1:c.3166dup (FANCA)	XP_024305957.1:p.Asp1056GlyfsTer2
XR_933244.2:n.4152dup (FANCA)
XR_933245.2:n.4089dup (FANCA)
XR_933484.2:n.2722dup (ZNF276)
NM_000135.4:c.4185dup (FANCA) MANE Select	NP_000126.2:p.Ile1396AspfsTer29
NM_001113525.2:c.*711dup (ZNF276) MANE Select	NP_001106997.1:n.*711dup
NM_001286167.3:c.4189dup (FANCA)	NP_001273096.1:p.Asp1397GlyfsTer2
NM_152287.4:c.*711dup (ZNF276)	NP_689500.2:n.*711dup
NR_110122.2:n.2711dup (ZNF276)
NR_110126.2:n.2594dup (ZNF276)
NR_110129.2:n.2628dup (ZNF276)
NR_110128.2:n.2534dup (ZNF276)