Canonical Allele Identifier: CA000965

Gene: BRCA1

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094086_43094089del , CM000679.2:g.43094086_43094089del	GRCh38
NC_000017.10:g.41246103_41246106del , CM000679.1:g.41246103_41246106del	GRCh37
NC_000017.9:g.38499629_38499632del	NCBI36
NG_005905.2:g.123897_123900del , LRG_292:g.123897_123900del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.1508_1511del
ENST00000461574.2:c.1444_1447del	ENSP00000417241.2:p.Ile482Ter
ENST00000470026.6:c.1444_1447del	ENSP00000419274.2:p.Ile482Ter
ENST00000473961.6:c.1318_1321del	ENSP00000420201.2:p.Ile440Ter
ENST00000476777.6:c.1441_1444del	ENSP00000417554.2:p.Ile481Ter
ENST00000477152.6:c.1366_1369del	ENSP00000419988.2:p.Ile456Ter
ENST00000478531.6:c.784+657_784+660del	ENSP00000420412.2:n.784+657_784+660del
ENST00000489037.2:c.1366_1369del	ENSP00000420781.2:p.Ile456Ter
ENST00000493919.6:c.646+657_646+660del	ENSP00000418819.2:n.646+657_646+660del
ENST00000494123.6:c.1444_1447del	ENSP00000419103.2:p.Ile482Ter
ENST00000497488.2:c.556_559del	ENSP00000418986.2:p.Ile186Ter
ENST00000618469.2:c.1444_1447del	ENSP00000478114.2:p.Ile482Ter
ENST00000634433.2:c.1321_1324del	ENSP00000489431.2:p.Ile441Ter
ENST00000644379.2:c.1444_1447del	ENSP00000496570.2:p.Ile482Ter
ENST00000644555.2:c.646+657_646+660del	ENSP00000494614.2:n.646+657_646+660del
ENST00000652672.2:c.1303_1306del	ENSP00000498906.2:p.Ile435Ter
ENST00000484087.6:c.664+657_664+660del	ENSP00000419481.2:n.664+657_664+660del
ENST00000700182.1:c.706+657_706+660del	ENSP00000514849.1:n.706+657_706+660del
ENST00000700183.1:c.*1452_*1455del	ENSP00000514850.1:n.*1452_*1455del
ENST00000357654.9:c.1444_1447del MANE Select	ENSP00000350283.3:p.Ile482Ter
ENST00000471181.7:c.1444_1447del	ENSP00000418960.2:p.Ile482Ter
ENST00000652672.1:c.1303_1306del	ENSP00000498906.1:p.Ile435Ter
ENST00000352993.7:c.670+1759_670+1762del	ENSP00000312236.5:n.670+1759_670+1762del
ENST00000354071.7:c.1444_1447del	ENSP00000326002.7:p.Ile482Ter
ENST00000357654.7:c.1444_1447del	ENSP00000350283.3:p.Ile482Ter
ENST00000412061.3:c.795_798del
ENST00000461221.5:c.*1227_*1230del	ENSP00000418548.1:n.*1227_*1230del
ENST00000468300.5:c.787+657_787+660del	ENSP00000417148.1:n.787+657_787+660del
ENST00000470026.5:c.1444_1447del	ENSP00000419274.1:p.Ile482Ter
ENST00000471181.6:c.1444_1447del	ENSP00000418960.2:p.Ile482Ter
ENST00000477152.5:c.1366_1369del	ENSP00000419988.1:p.Ile456Ter
ENST00000478531.5:c.784+657_784+660del	ENSP00000420412.1:n.784+657_784+660del
ENST00000484087.5:c.409+657_409+660del	ENSP00000419481.1:n.409+657_409+660del
ENST00000487825.5:c.412+657_412+660del	ENSP00000418212.1:n.412+657_412+660del
ENST00000491747.6:c.787+657_787+660del	ENSP00000420705.2:n.787+657_787+660del
ENST00000493795.5:c.1303_1306del	ENSP00000418775.1:p.Ile435Ter
ENST00000493919.5:c.646+657_646+660del	ENSP00000418819.1:n.646+657_646+660del
ENST00000586385.5:c.5-30136_5-30133del	ENSP00000465818.1:n.5-30136_5-30133del
ENST00000591534.5:c.-43-19566_-43-19563del	ENSP00000467329.1:n.-43-19566_-43-19563del
ENST00000591849.5:c.-99+31184_-99+31187del	ENSP00000465347.1:n.-99+31184_-99+31187del
ENST00000634433.1:c.1321_1324del	ENSP00000489431.1:p.Ile441Ter
NM_007294.3:c.1444_1447del , LRG_292t1:c.1444_1447del	NP_009225.1:p.Ile482Ter
NM_007297.3:c.1303_1306del	NP_009228.2:p.Ile435Ter
NM_007298.3:c.787+657_787+660del	NP_009229.2:n.787+657_787+660del
NM_007299.3:c.787+657_787+660del	NP_009230.2:n.787+657_787+660del
NM_007300.3:c.1444_1447del	NP_009231.2:p.Ile482Ter
NR_027676.1:n.1580_1583del
NM_007294.4:c.1444_1447del MANE Select	NP_009225.1:p.Ile482Ter
NM_007297.4:c.1303_1306del	NP_009228.2:p.Ile435Ter
NM_007299.4:c.787+657_787+660del	NP_009230.2:n.787+657_787+660del
NM_007300.4:c.1444_1447del	NP_009231.2:p.Ile482Ter
NR_027676.2:n.1621_1624del