Canonical Allele Identifier: CA2260775522

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076578_43076579delinsAT , CM000679.2:g.43076578_43076579delinsAT	GRCh38
NC_000017.10:g.41228595_41228596delinsAT , CM000679.1:g.41228595_41228596delinsAT	GRCh37
NC_000017.9:g.38482121_38482122delinsAT	NCBI36
NG_005905.2:g.141405_141406delinsAT , LRG_292:g.141405_141406delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4390_4391delinsAT	ENSP00000417241.2:p.Ile1464=
ENST00000470026.6:c.4393_4394delinsAT	ENSP00000419274.2:p.Ile1465=
ENST00000473961.6:c.4267_4268delinsAT	ENSP00000420201.2:p.Ile1423=
ENST00000476777.6:c.4387_4388delinsAT	ENSP00000417554.2:p.Ile1463=
ENST00000477152.6:c.4315_4316delinsAT	ENSP00000419988.2:p.Ile1439=
ENST00000478531.6:c.1081_1082delinsAT	ENSP00000420412.2:p.Ile361=
ENST00000489037.2:c.4315_4316delinsAT	ENSP00000420781.2:p.Ile1439=
ENST00000493919.6:c.943_944delinsAT	ENSP00000418819.2:p.Ile315=
ENST00000494123.6:c.4393_4394delinsAT	ENSP00000419103.2:p.Ile1465=
ENST00000497488.2:c.3505_3506delinsAT	ENSP00000418986.2:p.Ile1169=
ENST00000618469.2:c.4393_4394delinsAT	ENSP00000478114.2:p.Ile1465=
ENST00000634433.2:c.4270_4271delinsAT	ENSP00000489431.2:p.Ile1424=
ENST00000644379.2:c.4459_4460delinsAT	ENSP00000496570.2:p.Ile1487=
ENST00000644555.2:c.943_944delinsAT	ENSP00000494614.2:p.Ile315=
ENST00000652672.2:c.4252_4253delinsAT	ENSP00000498906.2:p.Ile1418=
ENST00000484087.6:c.955_956delinsAT	ENSP00000419481.2:p.Ile319=
ENST00000700182.1:c.1000_1001delinsAT	ENSP00000514849.1:p.Ile334=
ENST00000357654.9:c.4393_4394delinsAT MANE Select	ENSP00000350283.3:p.Ile1465=
ENST00000471181.7:c.4456_4457delinsAT	ENSP00000418960.2:p.Ile1486=
ENST00000644379.1:c.780_781delinsAT
ENST00000352993.7:c.967_968delinsAT	ENSP00000312236.5:p.Ile323=
ENST00000357654.7:c.4393_4394delinsAT	ENSP00000350283.3:p.Ile1465=
ENST00000461221.5:c.*4176_*4177delinsAT	ENSP00000418548.1:n.*4176_*4177delinsAT
ENST00000461574.1:c.684_685delinsAT
ENST00000468300.5:c.1081_1082delinsAT	ENSP00000417148.1:p.Ile361=
ENST00000471181.6:c.4456_4457delinsAT	ENSP00000418960.2:p.Ile1486=
ENST00000478531.5:c.1081_1082delinsAT	ENSP00000420412.1:p.Ile361=
ENST00000484087.5:c.706_707delinsAT	ENSP00000419481.1:p.Ile236=
ENST00000487825.5:c.709_710delinsAT	ENSP00000418212.1:p.Ile237=
ENST00000491747.6:c.1081_1082delinsAT	ENSP00000420705.2:p.Ile361=
ENST00000493795.5:c.4252_4253delinsAT	ENSP00000418775.1:p.Ile1418=
ENST00000493919.5:c.943_944delinsAT	ENSP00000418819.1:p.Ile315=
ENST00000586385.5:c.5-12628_5-12627delinsAT	ENSP00000465818.1:n.5-12628_5-12627delinsAT
ENST00000591534.5:c.-43-2058_-43-2057delinsAT	ENSP00000467329.1:n.-43-2058_-43-2057delinsAT
ENST00000591849.5:c.-98-26389_-98-26388delinsAT	ENSP00000465347.1:n.-98-26389_-98-26388delinsAT
ENST00000621897.1:n.284_285delinsAT
NM_007294.3:c.4393_4394delinsAT , LRG_292t1:c.4393_4394delinsAT	NP_009225.1:p.Ile1465=
NM_007297.3:c.4252_4253delinsAT	NP_009228.2:p.Ile1418=
NM_007298.3:c.1081_1082delinsAT	NP_009229.2:p.Ile361=
NM_007299.3:c.1081_1082delinsAT	NP_009230.2:p.Ile361=
NM_007300.3:c.4456_4457delinsAT	NP_009231.2:p.Ile1486=
NR_027676.1:n.4529_4530delinsAT
NM_007294.4:c.4393_4394delinsAT MANE Select	NP_009225.1:p.Ile1465=
NM_007297.4:c.4252_4253delinsAT	NP_009228.2:p.Ile1418=
NM_007299.4:c.1081_1082delinsAT	NP_009230.2:p.Ile361=
NM_007300.4:c.4456_4457delinsAT	NP_009231.2:p.Ile1486=
NR_027676.2:n.4570_4571delinsAT