Canonical Allele Identifier: CA2260784072

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093536_43093537delinsGT , CM000679.2:g.43093536_43093537delinsGT	GRCh38
NC_000017.10:g.41245553_41245554delinsGT , CM000679.1:g.41245553_41245554delinsGT	GRCh37
NC_000017.9:g.38499079_38499080delinsGT	NCBI36
NG_005905.2:g.124447_124448delinsAC , LRG_292:g.124447_124448delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.2058_2059delinsAC
ENST00000461574.2:c.1994_1995delinsAC	ENSP00000417241.2:p.Asn665=
ENST00000470026.6:c.1994_1995delinsAC	ENSP00000419274.2:p.Asn665=
ENST00000473961.6:c.1868_1869delinsAC	ENSP00000420201.2:p.Asn623=
ENST00000476777.6:c.1991_1992delinsAC	ENSP00000417554.2:p.Asn664=
ENST00000477152.6:c.1916_1917delinsAC	ENSP00000419988.2:p.Asn639=
ENST00000478531.6:c.784+1207_784+1208delinsAC	ENSP00000420412.2:n.784+1207_784+1208delinsAC
ENST00000489037.2:c.1916_1917delinsAC	ENSP00000420781.2:p.Asn639=
ENST00000493919.6:c.646+1207_646+1208delinsAC	ENSP00000418819.2:n.646+1207_646+1208delinsAC
ENST00000494123.6:c.1994_1995delinsAC	ENSP00000419103.2:p.Asn665=
ENST00000497488.2:c.1106_1107delinsAC	ENSP00000418986.2:p.Asn369=
ENST00000618469.2:c.1994_1995delinsAC	ENSP00000478114.2:p.Asn665=
ENST00000634433.2:c.1871_1872delinsAC	ENSP00000489431.2:p.Asn624=
ENST00000644379.2:c.1994_1995delinsAC	ENSP00000496570.2:p.Asn665=
ENST00000644555.2:c.646+1207_646+1208delinsAC	ENSP00000494614.2:n.646+1207_646+1208delinsAC
ENST00000652672.2:c.1853_1854delinsAC	ENSP00000498906.2:p.Asn618=
ENST00000484087.6:c.664+1207_664+1208delinsAC	ENSP00000419481.2:n.664+1207_664+1208delinsAC
ENST00000700182.1:c.706+1207_706+1208delinsAC	ENSP00000514849.1:n.706+1207_706+1208delinsAC
ENST00000357654.9:c.1994_1995delinsAC MANE Select	ENSP00000350283.3:p.Asn665=
ENST00000471181.7:c.1994_1995delinsAC	ENSP00000418960.2:p.Asn665=
ENST00000352993.7:c.670+2309_670+2310delinsAC	ENSP00000312236.5:n.670+2309_670+2310delinsAC
ENST00000354071.7:c.1994_1995delinsAC	ENSP00000326002.7:p.Asn665=
ENST00000357654.7:c.1994_1995delinsAC	ENSP00000350283.3:p.Asn665=
ENST00000461221.5:c.*1777_*1778delinsAC	ENSP00000418548.1:n.*1777_*1778delinsAC
ENST00000468300.5:c.787+1207_787+1208delinsAC	ENSP00000417148.1:n.787+1207_787+1208delinsAC
ENST00000471181.6:c.1994_1995delinsAC	ENSP00000418960.2:p.Asn665=
ENST00000478531.5:c.784+1207_784+1208delinsAC	ENSP00000420412.1:n.784+1207_784+1208delinsAC
ENST00000484087.5:c.409+1207_409+1208delinsAC	ENSP00000419481.1:n.409+1207_409+1208delinsAC
ENST00000487825.5:c.412+1207_412+1208delinsAC	ENSP00000418212.1:n.412+1207_412+1208delinsAC
ENST00000491747.6:c.787+1207_787+1208delinsAC	ENSP00000420705.2:n.787+1207_787+1208delinsAC
ENST00000493795.5:c.1853_1854delinsAC	ENSP00000418775.1:p.Asn618=
ENST00000493919.5:c.646+1207_646+1208delinsAC	ENSP00000418819.1:n.646+1207_646+1208delinsAC
ENST00000586385.5:c.5-29586_5-29585delinsAC	ENSP00000465818.1:n.5-29586_5-29585delinsAC
ENST00000591534.5:c.-43-19016_-43-19015delinsAC	ENSP00000467329.1:n.-43-19016_-43-19015delinsAC
ENST00000591849.5:c.-99+31734_-99+31735delinsAC	ENSP00000465347.1:n.-99+31734_-99+31735delinsAC
ENST00000634433.1:c.1871_1872delinsAC	ENSP00000489431.1:p.Asn624=
NM_007294.3:c.1994_1995delinsAC , LRG_292t1:c.1994_1995delinsAC	NP_009225.1:p.Asn665=
NM_007297.3:c.1853_1854delinsAC	NP_009228.2:p.Asn618=
NM_007298.3:c.787+1207_787+1208delinsAC	NP_009229.2:n.787+1207_787+1208delinsAC
NM_007299.3:c.787+1207_787+1208delinsAC	NP_009230.2:n.787+1207_787+1208delinsAC
NM_007300.3:c.1994_1995delinsAC	NP_009231.2:p.Asn665=
NR_027676.1:n.2130_2131delinsAC
NM_007294.4:c.1994_1995delinsAC MANE Select	NP_009225.1:p.Asn665=
NM_007297.4:c.1853_1854delinsAC	NP_009228.2:p.Asn618=
NM_007299.4:c.787+1207_787+1208delinsAC	NP_009230.2:n.787+1207_787+1208delinsAC
NM_007300.4:c.1994_1995delinsAC	NP_009231.2:p.Asn665=
NR_027676.2:n.2171_2172delinsAC