Canonical Allele Identifier: CA2733909348

Gene: BRCA1

Linked Data

• dbSNP Id: rs2153987484

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074338_43074361dup , CM000679.2:g.43074338_43074361dup	GRCh38
NC_000017.10:g.41226355_41226378dup , CM000679.1:g.41226355_41226378dup	GRCh37
NC_000017.9:g.38479881_38479904dup	NCBI36
NG_005905.2:g.143625_143648dup , LRG_292:g.143625_143648dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4644_4667dup	ENSP00000417241.2:p.Gln1555_Asp1556insGlu...
ENST00000470026.6:c.4647_4670dup	ENSP00000419274.2:p.Gln1556_Asp1557insGlu...
ENST00000473961.6:c.4521_4544dup	ENSP00000420201.2:p.Gln1514_Asp1515insGlu...
ENST00000476777.6:c.4641_4664dup	ENSP00000417554.2:p.Gln1554_Asp1555insGlu...
ENST00000477152.6:c.4569_4592dup	ENSP00000419988.2:p.Gln1530_Asp1531insGlu...
ENST00000478531.6:c.1335_1358dup	ENSP00000420412.2:p.Gln452_Asp453insGluTh...
ENST00000489037.2:c.4569_4592dup	ENSP00000420781.2:p.Gln1530_Asp1531insGlu...
ENST00000493919.6:c.1197_1220dup	ENSP00000418819.2:p.Gln406_Asp407insGluTh...
ENST00000494123.6:c.4647_4670dup	ENSP00000419103.2:p.Gln1556_Asp1557insGlu...
ENST00000497488.2:c.3759_3782dup	ENSP00000418986.2:p.Gln1260_Asp1261insGlu...
ENST00000618469.2:c.4647_4670dup	ENSP00000478114.2:p.Gln1556_Asp1557insGlu...
ENST00000634433.2:c.4524_4547dup	ENSP00000489431.2:p.Gln1515_Asp1516insGlu...
ENST00000644379.2:c.4713_4736dup	ENSP00000496570.2:p.Gln1578_Asp1579insGlu...
ENST00000644555.2:c.1197_1220dup	ENSP00000494614.2:p.Gln406_Asp407insGluTh...
ENST00000652672.2:c.4506_4529dup	ENSP00000498906.2:p.Gln1509_Asp1510insGlu...
ENST00000484087.6:c.1209_1232dup	ENSP00000419481.2:p.Gln410_Asp411insGluTh...
ENST00000700182.1:c.1254_1277dup	ENSP00000514849.1:p.Gln425_Asp426insGluTh...
ENST00000357654.9:c.4647_4670dup MANE Select	ENSP00000350283.3:p.Gln1556_Asp1557insGlu...
ENST00000471181.7:c.4710_4733dup	ENSP00000418960.2:p.Gln1577_Asp1578insGlu...
ENST00000644379.1:c.1034_1057dup
ENST00000352993.7:c.1221_1244dup	ENSP00000312236.5:p.Gln414_Asp415insGluTh...
ENST00000357654.7:c.4647_4670dup	ENSP00000350283.3:p.Gln1556_Asp1557insGlu...
ENST00000461221.5:c.*4430_*4453dup	ENSP00000418548.1:n.*4430_*4453dup
ENST00000468300.5:c.1335_1358dup	ENSP00000417148.1:p.Gln452_Asp453insGluTh...
ENST00000471181.6:c.4710_4733dup	ENSP00000418960.2:p.Gln1577_Asp1578insGlu...
ENST00000478531.5:c.1335_1358dup	ENSP00000420412.1:p.Gln452_Asp453insGluTh...
ENST00000484087.5:c.960_983dup	ENSP00000419481.1:p.Gln327_Asp328insGluTh...
ENST00000491747.6:c.1335_1358dup	ENSP00000420705.2:p.Gln452_Asp453insGluTh...
ENST00000493795.5:c.4506_4529dup	ENSP00000418775.1:p.Gln1509_Asp1510insGlu...
ENST00000493919.5:c.1197_1220dup	ENSP00000418819.1:p.Gln406_Asp407insGluTh...
ENST00000586385.5:c.5-10408_5-10385dup	ENSP00000465818.1:n.5-10408_5-10385dup
ENST00000591534.5:c.120_143dup	ENSP00000467329.1:p.Gln47_Asp48insGluThrS...
ENST00000591849.5:c.-98-24169_-98-24146dup	ENSP00000465347.1:n.-98-24169_-98-24146du...
NM_007294.3:c.4647_4670dup , LRG_292t1:c.4647_4670dup	NP_009225.1:p.Gln1556_Asp1557insGluThrSer...
NM_007297.3:c.4506_4529dup	NP_009228.2:p.Gln1509_Asp1510insGluThrSer...
NM_007298.3:c.1335_1358dup	NP_009229.2:p.Gln452_Asp453insGluThrSerTy...
NM_007299.3:c.1335_1358dup	NP_009230.2:p.Gln452_Asp453insGluThrSerTy...
NM_007300.3:c.4710_4733dup	NP_009231.2:p.Gln1577_Asp1578insGluThrSer...
NR_027676.1:n.4783_4806dup
NM_007294.4:c.4647_4670dup MANE Select	NP_009225.1:p.Gln1556_Asp1557insGluThrSer...
NM_007297.4:c.4506_4529dup	NP_009228.2:p.Gln1509_Asp1510insGluThrSer...
NM_007299.4:c.1335_1358dup	NP_009230.2:p.Gln452_Asp453insGluThrSerTy...
NM_007300.4:c.4710_4733dup	NP_009231.2:p.Gln1577_Asp1578insGluThrSer...
NR_027676.2:n.4824_4847dup