Canonical Allele Identifier: CA2260783806

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093303_43093305delinsTTA , CM000679.2:g.43093303_43093305delinsTTA	GRCh38
NC_000017.10:g.41245320_41245322delinsTTA , CM000679.1:g.41245320_41245322delinsTTA	GRCh37
NC_000017.9:g.38498846_38498848delinsTTA	NCBI36
NG_005905.2:g.124679_124681delinsTAA , LRG_292:g.124679_124681delinsTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.2290_2292delinsTAA
ENST00000461574.2:c.2226_2228delinsTAA	ENSP00000417241.2:p.Asn742=
ENST00000470026.6:c.2226_2228delinsTAA	ENSP00000419274.2:p.Asn742=
ENST00000473961.6:c.2100_2102delinsTAA	ENSP00000420201.2:p.Asn700=
ENST00000476777.6:c.2223_2225delinsTAA	ENSP00000417554.2:p.Asn741=
ENST00000477152.6:c.2148_2150delinsTAA	ENSP00000419988.2:p.Asn716=
ENST00000478531.6:c.784+1439_784+1441delinsTAA	ENSP00000420412.2:n.784+1439_784+1441delinsTAA
ENST00000489037.2:c.2148_2150delinsTAA	ENSP00000420781.2:p.Asn716=
ENST00000493919.6:c.646+1439_646+1441delinsTAA	ENSP00000418819.2:n.646+1439_646+1441delinsTAA
ENST00000494123.6:c.2226_2228delinsTAA	ENSP00000419103.2:p.Asn742=
ENST00000497488.2:c.1338_1340delinsTAA	ENSP00000418986.2:p.Asn446=
ENST00000618469.2:c.2226_2228delinsTAA	ENSP00000478114.2:p.Asn742=
ENST00000634433.2:c.2103_2105delinsTAA	ENSP00000489431.2:p.Asn701=
ENST00000644379.2:c.2226_2228delinsTAA	ENSP00000496570.2:p.Asn742=
ENST00000644555.2:c.646+1439_646+1441delinsTAA	ENSP00000494614.2:n.646+1439_646+1441delinsTAA
ENST00000652672.2:c.2085_2087delinsTAA	ENSP00000498906.2:p.Asn695=
ENST00000484087.6:c.664+1439_664+1441delinsTAA	ENSP00000419481.2:n.664+1439_664+1441delinsTAA
ENST00000700182.1:c.706+1439_706+1441delinsTAA	ENSP00000514849.1:n.706+1439_706+1441delinsTAA
ENST00000357654.9:c.2226_2228delinsTAA MANE Select	ENSP00000350283.3:p.Asn742=
ENST00000471181.7:c.2226_2228delinsTAA	ENSP00000418960.2:p.Asn742=
ENST00000352993.7:c.671-2273_671-2271delinsTAA	ENSP00000312236.5:n.671-2273_671-2271delinsTAA
ENST00000354071.7:c.2226_2228delinsTAA	ENSP00000326002.7:p.Asn742=
ENST00000357654.7:c.2226_2228delinsTAA	ENSP00000350283.3:p.Asn742=
ENST00000461221.5:c.*2009_*2011delinsTAA	ENSP00000418548.1:n.*2009_*2011delinsTAA
ENST00000468300.5:c.787+1439_787+1441delinsTAA	ENSP00000417148.1:n.787+1439_787+1441delinsTAA
ENST00000471181.6:c.2226_2228delinsTAA	ENSP00000418960.2:p.Asn742=
ENST00000478531.5:c.784+1439_784+1441delinsTAA	ENSP00000420412.1:n.784+1439_784+1441delinsTAA
ENST00000484087.5:c.409+1439_409+1441delinsTAA	ENSP00000419481.1:n.409+1439_409+1441delinsTAA
ENST00000487825.5:c.412+1439_412+1441delinsTAA	ENSP00000418212.1:n.412+1439_412+1441delinsTAA
ENST00000491747.6:c.787+1439_787+1441delinsTAA	ENSP00000420705.2:n.787+1439_787+1441delinsTAA
ENST00000493795.5:c.2085_2087delinsTAA	ENSP00000418775.1:p.Asn695=
ENST00000493919.5:c.646+1439_646+1441delinsTAA	ENSP00000418819.1:n.646+1439_646+1441delinsTAA
ENST00000586385.5:c.5-29354_5-29352delinsTAA	ENSP00000465818.1:n.5-29354_5-29352delinsTAA
ENST00000591534.5:c.-43-18784_-43-18782delinsTAA	ENSP00000467329.1:n.-43-18784_-43-18782delinsTAA
ENST00000591849.5:c.-99+31966_-99+31968delinsTAA	ENSP00000465347.1:n.-99+31966_-99+31968delinsTAA
ENST00000634433.1:c.2103_2105delinsTAA	ENSP00000489431.1:p.Asn701=
NM_007294.3:c.2226_2228delinsTAA , LRG_292t1:c.2226_2228delinsTAA	NP_009225.1:p.Asn742=
NM_007297.3:c.2085_2087delinsTAA	NP_009228.2:p.Asn695=
NM_007298.3:c.787+1439_787+1441delinsTAA	NP_009229.2:n.787+1439_787+1441delinsTAA
NM_007299.3:c.787+1439_787+1441delinsTAA	NP_009230.2:n.787+1439_787+1441delinsTAA
NM_007300.3:c.2226_2228delinsTAA	NP_009231.2:p.Asn742=
NR_027676.1:n.2362_2364delinsTAA
NM_007294.4:c.2226_2228delinsTAA MANE Select	NP_009225.1:p.Asn742=
NM_007297.4:c.2085_2087delinsTAA	NP_009228.2:p.Asn695=
NM_007299.4:c.787+1439_787+1441delinsTAA	NP_009230.2:n.787+1439_787+1441delinsTAA
NM_007300.4:c.2226_2228delinsTAA	NP_009231.2:p.Asn742=
NR_027676.2:n.2403_2405delinsTAA