Canonical Allele Identifier: CA2582342179

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 2583830
• ClinVar RCV Id: RCV003334752

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093861_43093862delinsA , CM000679.2:g.43093861_43093862delinsA	GRCh38
NC_000017.10:g.41245878_41245879delinsA , CM000679.1:g.41245878_41245879delinsA	GRCh37
NC_000017.9:g.38499404_38499405delinsA	NCBI36
NG_005905.2:g.124122_124123delinsT , LRG_292:g.124122_124123delinsT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.1733_1734delinsT
ENST00000461574.2:c.1669_1670delinsT	ENSP00000417241.2:p.Thr557Ter
ENST00000470026.6:c.1669_1670delinsT	ENSP00000419274.2:p.Thr557Ter
ENST00000473961.6:c.1543_1544delinsT	ENSP00000420201.2:p.Thr515Ter
ENST00000476777.6:c.1666_1667delinsT	ENSP00000417554.2:p.Thr556Ter
ENST00000477152.6:c.1591_1592delinsT	ENSP00000419988.2:p.Thr531Ter
ENST00000478531.6:c.784+882_784+883delinsT	ENSP00000420412.2:n.784+882_784+883delinsT
ENST00000489037.2:c.1591_1592delinsT	ENSP00000420781.2:p.Thr531Ter
ENST00000493919.6:c.646+882_646+883delinsT	ENSP00000418819.2:n.646+882_646+883delinsT
ENST00000494123.6:c.1669_1670delinsT	ENSP00000419103.2:p.Thr557Ter
ENST00000497488.2:c.781_782delinsT	ENSP00000418986.2:p.Thr261Ter
ENST00000618469.2:c.1669_1670delinsT	ENSP00000478114.2:p.Thr557Ter
ENST00000634433.2:c.1546_1547delinsT	ENSP00000489431.2:p.Thr516Ter
ENST00000644379.2:c.1669_1670delinsT	ENSP00000496570.2:p.Thr557Ter
ENST00000644555.2:c.646+882_646+883delinsT	ENSP00000494614.2:n.646+882_646+883delinsT
ENST00000652672.2:c.1528_1529delinsT	ENSP00000498906.2:p.Thr510Ter
ENST00000484087.6:c.664+882_664+883delinsT	ENSP00000419481.2:n.664+882_664+883delinsT
ENST00000700182.1:c.706+882_706+883delinsT	ENSP00000514849.1:n.706+882_706+883delinsT
ENST00000357654.9:c.1669_1670delinsT MANE Select	ENSP00000350283.3:p.Thr557Ter
ENST00000471181.7:c.1669_1670delinsT	ENSP00000418960.2:p.Thr557Ter
ENST00000652672.1:c.1528_1529delinsT	ENSP00000498906.1:p.Thr510Ter
ENST00000352993.7:c.670+1984_670+1985delinsT	ENSP00000312236.5:n.670+1984_670+1985delinsT
ENST00000354071.7:c.1669_1670delinsT	ENSP00000326002.7:p.Thr557Ter
ENST00000357654.7:c.1669_1670delinsT	ENSP00000350283.3:p.Thr557Ter
ENST00000412061.3:c.1020_1021delinsT
ENST00000461221.5:c.*1452_*1453delinsT	ENSP00000418548.1:n.*1452_*1453delinsT
ENST00000468300.5:c.787+882_787+883delinsT	ENSP00000417148.1:n.787+882_787+883delinsT
ENST00000470026.5:c.1669_1670delinsT	ENSP00000419274.1:p.Thr557Ter
ENST00000471181.6:c.1669_1670delinsT	ENSP00000418960.2:p.Thr557Ter
ENST00000477152.5:c.1591_1592delinsT	ENSP00000419988.1:p.Thr531Ter
ENST00000478531.5:c.784+882_784+883delinsT	ENSP00000420412.1:n.784+882_784+883delinsT
ENST00000484087.5:c.409+882_409+883delinsT	ENSP00000419481.1:n.409+882_409+883delinsT
ENST00000487825.5:c.412+882_412+883delinsT	ENSP00000418212.1:n.412+882_412+883delinsT
ENST00000491747.6:c.787+882_787+883delinsT	ENSP00000420705.2:n.787+882_787+883delinsT
ENST00000493795.5:c.1528_1529delinsT	ENSP00000418775.1:p.Thr510Ter
ENST00000493919.5:c.646+882_646+883delinsT	ENSP00000418819.1:n.646+882_646+883delinsT
ENST00000586385.5:c.5-29911_5-29910delinsT	ENSP00000465818.1:n.5-29911_5-29910delinsT
ENST00000591534.5:c.-43-19341_-43-19340delinsT	ENSP00000467329.1:n.-43-19341_-43-19340delinsT
ENST00000591849.5:c.-99+31409_-99+31410delinsT	ENSP00000465347.1:n.-99+31409_-99+31410delinsT
ENST00000634433.1:c.1546_1547delinsT	ENSP00000489431.1:p.Thr516Ter
NM_007294.3:c.1669_1670delinsT , LRG_292t1:c.1669_1670delinsT	NP_009225.1:p.Thr557Ter
NM_007297.3:c.1528_1529delinsT	NP_009228.2:p.Thr510Ter
NM_007298.3:c.787+882_787+883delinsT	NP_009229.2:n.787+882_787+883delinsT
NM_007299.3:c.787+882_787+883delinsT	NP_009230.2:n.787+882_787+883delinsT
NM_007300.3:c.1669_1670delinsT	NP_009231.2:p.Thr557Ter
NR_027676.1:n.1805_1806delinsT
NM_007294.4:c.1669_1670delinsT MANE Select	NP_009225.1:p.Thr557Ter
NM_007297.4:c.1528_1529delinsT	NP_009228.2:p.Thr510Ter
NM_007299.4:c.787+882_787+883delinsT	NP_009230.2:n.787+882_787+883delinsT
NM_007300.4:c.1669_1670delinsT	NP_009231.2:p.Thr557Ter
NR_027676.2:n.1846_1847delinsT