Canonical Allele Identifier: CA2580094092

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 2129025
• ClinVar RCV Id: RCV003057867

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093461_43093471del , CM000679.2:g.43093461_43093471del	GRCh38
NC_000017.10:g.41245478_41245488del , CM000679.1:g.41245478_41245488del	GRCh37
NC_000017.9:g.38499004_38499014del	NCBI36
NG_005905.2:g.124518_124528del , LRG_292:g.124518_124528del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.2129_2139del
ENST00000461574.2:c.2065_2075del	ENSP00000417241.2:p.Ser689Ter
ENST00000470026.6:c.2065_2075del	ENSP00000419274.2:p.Ser689Ter
ENST00000473961.6:c.1939_1949del	ENSP00000420201.2:p.Ser647Ter
ENST00000476777.6:c.2062_2072del	ENSP00000417554.2:p.Ser688Ter
ENST00000477152.6:c.1987_1997del	ENSP00000419988.2:p.Ser663Ter
ENST00000478531.6:c.784+1278_784+1288del	ENSP00000420412.2:n.784+1278_784+1288del
ENST00000489037.2:c.1987_1997del	ENSP00000420781.2:p.Ser663Ter
ENST00000493919.6:c.646+1278_646+1288del	ENSP00000418819.2:n.646+1278_646+1288del
ENST00000494123.6:c.2065_2075del	ENSP00000419103.2:p.Ser689Ter
ENST00000497488.2:c.1177_1187del	ENSP00000418986.2:p.Ser393Ter
ENST00000618469.2:c.2065_2075del	ENSP00000478114.2:p.Ser689Ter
ENST00000634433.2:c.1942_1952del	ENSP00000489431.2:p.Ser648Ter
ENST00000644379.2:c.2065_2075del	ENSP00000496570.2:p.Ser689Ter
ENST00000644555.2:c.646+1278_646+1288del	ENSP00000494614.2:n.646+1278_646+1288del
ENST00000652672.2:c.1924_1934del	ENSP00000498906.2:p.Ser642Ter
ENST00000484087.6:c.664+1278_664+1288del	ENSP00000419481.2:n.664+1278_664+1288del
ENST00000700182.1:c.706+1278_706+1288del	ENSP00000514849.1:n.706+1278_706+1288del
ENST00000357654.9:c.2065_2075del MANE Select	ENSP00000350283.3:p.Ser689Ter
ENST00000471181.7:c.2065_2075del	ENSP00000418960.2:p.Ser689Ter
ENST00000352993.7:c.670+2380_670+2390del	ENSP00000312236.5:n.670+2380_670+2390del
ENST00000354071.7:c.2065_2075del	ENSP00000326002.7:p.Ser689Ter
ENST00000357654.7:c.2065_2075del	ENSP00000350283.3:p.Ser689Ter
ENST00000461221.5:c.*1848_*1858del	ENSP00000418548.1:n.*1848_*1858del
ENST00000468300.5:c.787+1278_787+1288del	ENSP00000417148.1:n.787+1278_787+1288del
ENST00000471181.6:c.2065_2075del	ENSP00000418960.2:p.Ser689Ter
ENST00000478531.5:c.784+1278_784+1288del	ENSP00000420412.1:n.784+1278_784+1288del
ENST00000484087.5:c.409+1278_409+1288del	ENSP00000419481.1:n.409+1278_409+1288del
ENST00000487825.5:c.412+1278_412+1288del	ENSP00000418212.1:n.412+1278_412+1288del
ENST00000491747.6:c.787+1278_787+1288del	ENSP00000420705.2:n.787+1278_787+1288del
ENST00000493795.5:c.1924_1934del	ENSP00000418775.1:p.Ser642Ter
ENST00000493919.5:c.646+1278_646+1288del	ENSP00000418819.1:n.646+1278_646+1288del
ENST00000586385.5:c.5-29515_5-29505del	ENSP00000465818.1:n.5-29515_5-29505del
ENST00000591534.5:c.-43-18945_-43-18935del	ENSP00000467329.1:n.-43-18945_-43-18935del
ENST00000591849.5:c.-99+31805_-99+31815del	ENSP00000465347.1:n.-99+31805_-99+31815del
ENST00000634433.1:c.1942_1952del	ENSP00000489431.1:p.Ser648Ter
NM_007294.3:c.2065_2075del , LRG_292t1:c.2065_2075del	NP_009225.1:p.Ser689Ter
NM_007297.3:c.1924_1934del	NP_009228.2:p.Ser642Ter
NM_007298.3:c.787+1278_787+1288del	NP_009229.2:n.787+1278_787+1288del
NM_007299.3:c.787+1278_787+1288del	NP_009230.2:n.787+1278_787+1288del
NM_007300.3:c.2065_2075del	NP_009231.2:p.Ser689Ter
NR_027676.1:n.2201_2211del
NM_007294.4:c.2065_2075del MANE Select	NP_009225.1:p.Ser689Ter
NM_007297.4:c.1924_1934del	NP_009228.2:p.Ser642Ter
NM_007299.4:c.787+1278_787+1288del	NP_009230.2:n.787+1278_787+1288del
NM_007300.4:c.2065_2075del	NP_009231.2:p.Ser689Ter
NR_027676.2:n.2242_2252del