Canonical Allele Identifier: CA2260766436

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43057104_43057110delinsTTGACCA , CM000679.2:g.43057104_43057110delinsTTGACCA	GRCh38
NC_000017.10:g.41209121_41209127delinsTTGACCA , CM000679.1:g.41209121_41209127delinsTTGACCA	GRCh37
NC_000017.9:g.38462647_38462653delinsTTGACCA	NCBI36
NG_005905.2:g.160874_160880delinsTGGTCAA , LRG_292:g.160874_160880delinsTGGTCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5216_5222delinsTGGTCAA	ENSP00000417241.2:p.Val1739=
ENST00000470026.6:c.5219_5225delinsTGGTCAA	ENSP00000419274.2:p.Val1740=
ENST00000473961.6:c.5093_5099delinsTGGTCAA	ENSP00000420201.2:p.Val1698=
ENST00000476777.6:c.5213_5219delinsTGGTCAA	ENSP00000417554.2:p.Val1738=
ENST00000477152.6:c.5141_5147delinsTGGTCAA	ENSP00000419988.2:p.Val1714=
ENST00000478531.6:c.1907_1913delinsTGGTCAA	ENSP00000420412.2:p.Val636=
ENST00000489037.2:c.5141_5147delinsTGGTCAA	ENSP00000420781.2:p.Val1714=
ENST00000493919.6:c.1769_1775delinsTGGTCAA	ENSP00000418819.2:p.Val590=
ENST00000494123.6:c.5219_5225delinsTGGTCAA	ENSP00000419103.2:p.Val1740=
ENST00000497488.2:c.4331_4337delinsTGGTCAA	ENSP00000418986.2:p.Val1444=
ENST00000618469.2:c.5219_5225delinsTGGTCAA	ENSP00000478114.2:p.Val1740=
ENST00000634433.2:c.5096_5102delinsTGGTCAA	ENSP00000489431.2:p.Val1699=
ENST00000644379.2:c.5285_5291delinsTGGTCAA	ENSP00000496570.2:p.Val1762=
ENST00000644555.2:c.1769_1775delinsTGGTCAA	ENSP00000494614.2:p.Val590=
ENST00000652672.2:c.5078_5084delinsTGGTCAA	ENSP00000498906.2:p.Val1693=
ENST00000484087.6:c.1781_1787delinsTGGTCAA	ENSP00000419481.2:p.Val594=
ENST00000357654.9:c.5219_5225delinsTGGTCAA MANE Select	ENSP00000350283.3:p.Val1740=
ENST00000471181.7:c.5282_5288delinsTGGTCAA	ENSP00000418960.2:p.Val1761=
ENST00000644379.1:c.1606_1612delinsTGGTCAA
ENST00000352993.7:c.1793_1799delinsTGGTCAA	ENSP00000312236.5:p.Val598=
ENST00000357654.7:c.5219_5225delinsTGGTCAA	ENSP00000350283.3:p.Val1740=
ENST00000461221.5:c.*5002_*5008delinsTGGTCAA	ENSP00000418548.1:n.*5002_*5008delinsTGGTCAA
ENST00000468300.5:c.1907_1913delinsTGGTCAA	ENSP00000417148.1:p.Val636=
ENST00000471181.6:c.5282_5288delinsTGGTCAA	ENSP00000418960.2:p.Val1761=
ENST00000491747.6:c.1907_1913delinsTGGTCAA	ENSP00000420705.2:p.Val636=
ENST00000493795.5:c.5078_5084delinsTGGTCAA	ENSP00000418775.1:p.Val1693=
ENST00000586385.5:c.149_155delinsTGGTCAA	ENSP00000465818.1:p.Val50=
ENST00000591534.5:c.692_698delinsTGGTCAA	ENSP00000467329.1:p.Val231=
ENST00000591849.5:c.-98-6920_-98-6914delinsTGGTCAA	ENSP00000465347.1:n.-98-6920_-98-6914delinsTGGTCAA
NM_007294.3:c.5219_5225delinsTGGTCAA , LRG_292t1:c.5219_5225delinsTGGTCAA	NP_009225.1:p.Val1740=
NM_007297.3:c.5078_5084delinsTGGTCAA	NP_009228.2:p.Val1693=
NM_007298.3:c.1907_1913delinsTGGTCAA	NP_009229.2:p.Val636=
NM_007299.3:c.1907_1913delinsTGGTCAA	NP_009230.2:p.Val636=
NM_007300.3:c.5282_5288delinsTGGTCAA	NP_009231.2:p.Val1761=
NR_027676.1:n.5355_5361delinsTGGTCAA
NM_007294.4:c.5219_5225delinsTGGTCAA MANE Select	NP_009225.1:p.Val1740=
NM_007297.4:c.5078_5084delinsTGGTCAA	NP_009228.2:p.Val1693=
NM_007299.4:c.1907_1913delinsTGGTCAA	NP_009230.2:p.Val636=
NM_007300.4:c.5282_5288delinsTGGTCAA	NP_009231.2:p.Val1761=
NR_027676.2:n.5396_5402delinsTGGTCAA