Canonical Allele Identifier: CA1139768281

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1773067
• ClinVar RCV Id: RCV002394723

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094071_43094075del , CM000679.2:g.43094071_43094075del	GRCh38
NC_000017.10:g.41246088_41246092del , CM000679.1:g.41246088_41246092del	GRCh37
NC_000017.9:g.38499614_38499618del	NCBI36
NG_005905.2:g.123910_123914del , LRG_292:g.123910_123914del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.1521_1525del
ENST00000461574.2:c.1457_1461del	ENSP00000417241.2:p.Phe486TyrfsTer2
ENST00000470026.6:c.1457_1461del	ENSP00000419274.2:p.Phe486TyrfsTer2
ENST00000473961.6:c.1331_1335del	ENSP00000420201.2:p.Phe444TyrfsTer2
ENST00000476777.6:c.1454_1458del	ENSP00000417554.2:p.Phe485TyrfsTer2
ENST00000477152.6:c.1379_1383del	ENSP00000419988.2:p.Phe460TyrfsTer2
ENST00000478531.6:c.784+670_784+674del	ENSP00000420412.2:n.784+670_784+674del
ENST00000489037.2:c.1379_1383del	ENSP00000420781.2:p.Phe460TyrfsTer2
ENST00000493919.6:c.646+670_646+674del	ENSP00000418819.2:n.646+670_646+674del
ENST00000494123.6:c.1457_1461del	ENSP00000419103.2:p.Phe486TyrfsTer2
ENST00000497488.2:c.569_573del	ENSP00000418986.2:p.Phe190TyrfsTer2
ENST00000618469.2:c.1457_1461del	ENSP00000478114.2:p.Phe486TyrfsTer2
ENST00000634433.2:c.1334_1338del	ENSP00000489431.2:p.Phe445TyrfsTer2
ENST00000644379.2:c.1457_1461del	ENSP00000496570.2:p.Phe486TyrfsTer2
ENST00000644555.2:c.646+670_646+674del	ENSP00000494614.2:n.646+670_646+674del
ENST00000652672.2:c.1316_1320del	ENSP00000498906.2:p.Phe439TyrfsTer2
ENST00000484087.6:c.664+670_664+674del	ENSP00000419481.2:n.664+670_664+674del
ENST00000700182.1:c.706+670_706+674del	ENSP00000514849.1:n.706+670_706+674del
ENST00000700183.1:c.*1465_*1469del	ENSP00000514850.1:n.*1465_*1469del
ENST00000357654.9:c.1457_1461del MANE Select	ENSP00000350283.3:p.Phe486TyrfsTer2
ENST00000471181.7:c.1457_1461del	ENSP00000418960.2:p.Phe486TyrfsTer2
ENST00000652672.1:c.1316_1320del	ENSP00000498906.1:p.Phe439TyrfsTer2
ENST00000352993.7:c.670+1772_670+1776del	ENSP00000312236.5:n.670+1772_670+1776del
ENST00000354071.7:c.1457_1461del	ENSP00000326002.7:p.Phe486TyrfsTer2
ENST00000357654.7:c.1457_1461del	ENSP00000350283.3:p.Phe486TyrfsTer2
ENST00000412061.3:c.808_812del
ENST00000461221.5:c.*1240_*1244del	ENSP00000418548.1:n.*1240_*1244del
ENST00000468300.5:c.787+670_787+674del	ENSP00000417148.1:n.787+670_787+674del
ENST00000470026.5:c.1457_1461del	ENSP00000419274.1:p.Phe486TyrfsTer2
ENST00000471181.6:c.1457_1461del	ENSP00000418960.2:p.Phe486TyrfsTer2
ENST00000477152.5:c.1379_1383del	ENSP00000419988.1:p.Phe460TyrfsTer2
ENST00000478531.5:c.784+670_784+674del	ENSP00000420412.1:n.784+670_784+674del
ENST00000484087.5:c.409+670_409+674del	ENSP00000419481.1:n.409+670_409+674del
ENST00000487825.5:c.412+670_412+674del	ENSP00000418212.1:n.412+670_412+674del
ENST00000491747.6:c.787+670_787+674del	ENSP00000420705.2:n.787+670_787+674del
ENST00000493795.5:c.1316_1320del	ENSP00000418775.1:p.Phe439TyrfsTer2
ENST00000493919.5:c.646+670_646+674del	ENSP00000418819.1:n.646+670_646+674del
ENST00000586385.5:c.5-30123_5-30119del	ENSP00000465818.1:n.5-30123_5-30119del
ENST00000591534.5:c.-43-19553_-43-19549del	ENSP00000467329.1:n.-43-19553_-43-19549del
ENST00000591849.5:c.-99+31197_-99+31201del	ENSP00000465347.1:n.-99+31197_-99+31201del
ENST00000634433.1:c.1334_1338del	ENSP00000489431.1:p.Phe445TyrfsTer2
NM_007294.3:c.1457_1461del , LRG_292t1:c.1457_1461del	NP_009225.1:p.Phe486TyrfsTer2
NM_007297.3:c.1316_1320del	NP_009228.2:p.Phe439TyrfsTer2
NM_007298.3:c.787+670_787+674del	NP_009229.2:n.787+670_787+674del
NM_007299.3:c.787+670_787+674del	NP_009230.2:n.787+670_787+674del
NM_007300.3:c.1457_1461del	NP_009231.2:p.Phe486TyrfsTer2
NR_027676.1:n.1593_1597del
NM_007294.4:c.1457_1461del MANE Select	NP_009225.1:p.Phe486TyrfsTer2
NM_007297.4:c.1316_1320del	NP_009228.2:p.Phe439TyrfsTer2
NM_007299.4:c.787+670_787+674del	NP_009230.2:n.787+670_787+674del
NM_007300.4:c.1457_1461del	NP_009231.2:p.Phe486TyrfsTer2
NR_027676.2:n.1634_1638del