Canonical Allele Identifier: CA2733912913

Gene: BRCA1

Linked Data

• dbSNP Id: rs2153815050

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43070979_43070980insTTGTC , CM000679.2:g.43070979_43070980insTTGTC	GRCh38
NC_000017.10:g.41222996_41222997insTTGTC , CM000679.1:g.41222996_41222997insTTGTC	GRCh37
NC_000017.9:g.38476522_38476523insTTGTC	NCBI36
NG_005905.2:g.147005_147006insACAAG , LRG_292:g.147005_147006insACAAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4932_4933insACAAG	ENSP00000417241.2:p.Val1645ThrfsTer14
ENST00000470026.6:c.4935_4936insACAAG	ENSP00000419274.2:p.Val1646ThrfsTer14
ENST00000473961.6:c.4809_4810insACAAG	ENSP00000420201.2:p.Val1604ThrfsTer14
ENST00000476777.6:c.4929_4930insACAAG	ENSP00000417554.2:p.Val1644ThrfsTer14
ENST00000477152.6:c.4857_4858insACAAG	ENSP00000419988.2:p.Val1620ThrfsTer14
ENST00000478531.6:c.1623_1624insACAAG	ENSP00000420412.2:p.Val542ThrfsTer14
ENST00000489037.2:c.4857_4858insACAAG	ENSP00000420781.2:p.Val1620ThrfsTer14
ENST00000493919.6:c.1485_1486insACAAG	ENSP00000418819.2:p.Val496ThrfsTer14
ENST00000494123.6:c.4935_4936insACAAG	ENSP00000419103.2:p.Val1646ThrfsTer14
ENST00000497488.2:c.4047_4048insACAAG	ENSP00000418986.2:p.Val1350ThrfsTer14
ENST00000618469.2:c.4935_4936insACAAG	ENSP00000478114.2:p.Val1646ThrfsTer14
ENST00000634433.2:c.4812_4813insACAAG	ENSP00000489431.2:p.Val1605ThrfsTer14
ENST00000644379.2:c.5001_5002insACAAG	ENSP00000496570.2:p.Val1668ThrfsTer14
ENST00000644555.2:c.1485_1486insACAAG	ENSP00000494614.2:p.Val496ThrfsTer14
ENST00000652672.2:c.4794_4795insACAAG	ENSP00000498906.2:p.Val1599ThrfsTer14
ENST00000484087.6:c.1497_1498insACAAG	ENSP00000419481.2:p.Val500ThrfsTer14
ENST00000700182.1:c.1542_1543insACAAG	ENSP00000514849.1:p.Val515ThrfsTer14
ENST00000357654.9:c.4935_4936insACAAG MANE Select	ENSP00000350283.3:p.Val1646ThrfsTer14
ENST00000471181.7:c.4998_4999insACAAG	ENSP00000418960.2:p.Val1667ThrfsTer14
ENST00000644379.1:c.1322_1323insACAAG
ENST00000352993.7:c.1509_1510insACAAG	ENSP00000312236.5:p.Val504ThrfsTer14
ENST00000357654.7:c.4935_4936insACAAG	ENSP00000350283.3:p.Val1646ThrfsTer14
ENST00000461221.5:c.*4718_*4719insACAAG	ENSP00000418548.1:n.*4718_*4719insACAAG
ENST00000468300.5:c.1623_1624insACAAG	ENSP00000417148.1:p.Val542ThrfsTer14
ENST00000471181.6:c.4998_4999insACAAG	ENSP00000418960.2:p.Val1667ThrfsTer14
ENST00000472490.1:n.88_89insACAAG
ENST00000478531.5:c.1623_1624insACAAG	ENSP00000420412.1:p.Val542ThrfsTer14
ENST00000484087.5:c.1248_1249insACAAG	ENSP00000419481.1:p.Val417ThrfsTer14
ENST00000491747.6:c.1623_1624insACAAG	ENSP00000420705.2:p.Val542ThrfsTer14
ENST00000493795.5:c.4794_4795insACAAG	ENSP00000418775.1:p.Val1599ThrfsTer14
ENST00000493919.5:c.1485_1486insACAAG	ENSP00000418819.1:p.Val496ThrfsTer14
ENST00000586385.5:c.5-7028_5-7027insACAAG	ENSP00000465818.1:n.5-7028_5-7027insACAAG...
ENST00000591534.5:c.408_409insACAAG	ENSP00000467329.1:p.Val137ThrfsTer14
ENST00000591849.5:c.-98-20789_-98-20788insACAAG	ENSP00000465347.1:n.-98-20789_-98-20788in...
NM_007294.3:c.4935_4936insACAAG , LRG_292t1:c.4935_4936insACAAG	NP_009225.1:p.Val1646ThrfsTer14
NM_007297.3:c.4794_4795insACAAG	NP_009228.2:p.Val1599ThrfsTer14
NM_007298.3:c.1623_1624insACAAG	NP_009229.2:p.Val542ThrfsTer14
NM_007299.3:c.1623_1624insACAAG	NP_009230.2:p.Val542ThrfsTer14
NM_007300.3:c.4998_4999insACAAG	NP_009231.2:p.Val1667ThrfsTer14
NR_027676.1:n.5071_5072insACAAG
NM_007294.4:c.4935_4936insACAAG MANE Select	NP_009225.1:p.Val1646ThrfsTer14
NM_007297.4:c.4794_4795insACAAG	NP_009228.2:p.Val1599ThrfsTer14
NM_007299.4:c.1623_1624insACAAG	NP_009230.2:p.Val542ThrfsTer14
NM_007300.4:c.4998_4999insACAAG	NP_009231.2:p.Val1667ThrfsTer14
NR_027676.2:n.5112_5113insACAAG