Canonical Allele Identifier: CA2260772827

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43071007_43071009delinsTTC , CM000679.2:g.43071007_43071009delinsTTC	GRCh38
NC_000017.10:g.41223024_41223026delinsTTC , CM000679.1:g.41223024_41223026delinsTTC	GRCh37
NC_000017.9:g.38476550_38476552delinsTTC	NCBI36
NG_005905.2:g.146975_146977delinsGAA , LRG_292:g.146975_146977delinsGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4902_4904delinsGAA	ENSP00000417241.2:p.Glu1634=
ENST00000470026.6:c.4905_4907delinsGAA	ENSP00000419274.2:p.Glu1635=
ENST00000473961.6:c.4779_4781delinsGAA	ENSP00000420201.2:p.Glu1593=
ENST00000476777.6:c.4899_4901delinsGAA	ENSP00000417554.2:p.Glu1633=
ENST00000477152.6:c.4827_4829delinsGAA	ENSP00000419988.2:p.Glu1609=
ENST00000478531.6:c.1593_1595delinsGAA	ENSP00000420412.2:p.Glu531=
ENST00000489037.2:c.4827_4829delinsGAA	ENSP00000420781.2:p.Glu1609=
ENST00000493919.6:c.1455_1457delinsGAA	ENSP00000418819.2:p.Glu485=
ENST00000494123.6:c.4905_4907delinsGAA	ENSP00000419103.2:p.Glu1635=
ENST00000497488.2:c.4017_4019delinsGAA	ENSP00000418986.2:p.Glu1339=
ENST00000618469.2:c.4905_4907delinsGAA	ENSP00000478114.2:p.Glu1635=
ENST00000634433.2:c.4782_4784delinsGAA	ENSP00000489431.2:p.Glu1594=
ENST00000644379.2:c.4971_4973delinsGAA	ENSP00000496570.2:p.Glu1657=
ENST00000644555.2:c.1455_1457delinsGAA	ENSP00000494614.2:p.Glu485=
ENST00000652672.2:c.4764_4766delinsGAA	ENSP00000498906.2:p.Glu1588=
ENST00000484087.6:c.1467_1469delinsGAA	ENSP00000419481.2:p.Glu489=
ENST00000700182.1:c.1512_1514delinsGAA	ENSP00000514849.1:p.Glu504=
ENST00000357654.9:c.4905_4907delinsGAA MANE Select	ENSP00000350283.3:p.Glu1635=
ENST00000471181.7:c.4968_4970delinsGAA	ENSP00000418960.2:p.Glu1656=
ENST00000644379.1:c.1292_1294delinsGAA
ENST00000352993.7:c.1479_1481delinsGAA	ENSP00000312236.5:p.Glu493=
ENST00000357654.7:c.4905_4907delinsGAA	ENSP00000350283.3:p.Glu1635=
ENST00000461221.5:c.*4688_*4690delinsGAA	ENSP00000418548.1:n.*4688_*4690delinsGAA
ENST00000468300.5:c.1593_1595delinsGAA	ENSP00000417148.1:p.Glu531=
ENST00000471181.6:c.4968_4970delinsGAA	ENSP00000418960.2:p.Glu1656=
ENST00000472490.1:n.58_60delinsGAA
ENST00000478531.5:c.1593_1595delinsGAA	ENSP00000420412.1:p.Glu531=
ENST00000484087.5:c.1218_1220delinsGAA	ENSP00000419481.1:p.Glu406=
ENST00000491747.6:c.1593_1595delinsGAA	ENSP00000420705.2:p.Glu531=
ENST00000493795.5:c.4764_4766delinsGAA	ENSP00000418775.1:p.Glu1588=
ENST00000493919.5:c.1455_1457delinsGAA	ENSP00000418819.1:p.Glu485=
ENST00000586385.5:c.5-7058_5-7056delinsGAA	ENSP00000465818.1:n.5-7058_5-7056delinsGAA
ENST00000591534.5:c.378_380delinsGAA	ENSP00000467329.1:p.Glu126=
ENST00000591849.5:c.-98-20819_-98-20817delinsGAA	ENSP00000465347.1:n.-98-20819_-98-20817delinsGAA
NM_007294.3:c.4905_4907delinsGAA , LRG_292t1:c.4905_4907delinsGAA	NP_009225.1:p.Glu1635=
NM_007297.3:c.4764_4766delinsGAA	NP_009228.2:p.Glu1588=
NM_007298.3:c.1593_1595delinsGAA	NP_009229.2:p.Glu531=
NM_007299.3:c.1593_1595delinsGAA	NP_009230.2:p.Glu531=
NM_007300.3:c.4968_4970delinsGAA	NP_009231.2:p.Glu1656=
NR_027676.1:n.5041_5043delinsGAA
NM_007294.4:c.4905_4907delinsGAA MANE Select	NP_009225.1:p.Glu1635=
NM_007297.4:c.4764_4766delinsGAA	NP_009228.2:p.Glu1588=
NM_007299.4:c.1593_1595delinsGAA	NP_009230.2:p.Glu531=
NM_007300.4:c.4968_4970delinsGAA	NP_009231.2:p.Glu1656=
NR_027676.2:n.5082_5084delinsGAA