Canonical Allele Identifier: CA916080212

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 849158
• ClinVar RCV Id: RCV001053058
• dbSNP Id: rs2052742922
• gnomAD v4: 17-43076592-ACTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076593_43076595del , CM000679.2:g.43076593_43076595del	GRCh38
NC_000017.10:g.41228610_41228612del , CM000679.1:g.41228610_41228612del	GRCh37
NC_000017.9:g.38482136_38482138del	NCBI36
NG_005905.2:g.141389_141391del , LRG_292:g.141389_141391del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4374_4376del	ENSP00000417241.2:p.Lys1458_Ser1459delinsAsn
ENST00000470026.6:c.4377_4379del	ENSP00000419274.2:p.Lys1459_Ser1460delinsAsn
ENST00000473961.6:c.4251_4253del	ENSP00000420201.2:p.Lys1417_Ser1418delinsAsn
ENST00000476777.6:c.4371_4373del	ENSP00000417554.2:p.Lys1457_Ser1458delinsAsn
ENST00000477152.6:c.4299_4301del	ENSP00000419988.2:p.Lys1433_Ser1434delinsAsn
ENST00000478531.6:c.1065_1067del	ENSP00000420412.2:p.Lys355_Ser356delinsAsn
ENST00000489037.2:c.4299_4301del	ENSP00000420781.2:p.Lys1433_Ser1434delinsAsn
ENST00000493919.6:c.927_929del	ENSP00000418819.2:p.Lys309_Ser310delinsAsn
ENST00000494123.6:c.4377_4379del	ENSP00000419103.2:p.Lys1459_Ser1460delinsAsn
ENST00000497488.2:c.3489_3491del	ENSP00000418986.2:p.Lys1163_Ser1164delinsAsn
ENST00000618469.2:c.4377_4379del	ENSP00000478114.2:p.Lys1459_Ser1460delinsAsn
ENST00000634433.2:c.4254_4256del	ENSP00000489431.2:p.Lys1418_Ser1419delinsAsn
ENST00000644379.2:c.4443_4445del	ENSP00000496570.2:p.Lys1481_Ser1482delinsAsn
ENST00000644555.2:c.927_929del	ENSP00000494614.2:p.Lys309_Ser310delinsAsn
ENST00000652672.2:c.4236_4238del	ENSP00000498906.2:p.Lys1412_Ser1413delinsAsn
ENST00000484087.6:c.939_941del	ENSP00000419481.2:p.Lys313_Ser314delinsAsn
ENST00000700182.1:c.984_986del	ENSP00000514849.1:p.Lys328_Ser329delinsAsn
ENST00000357654.9:c.4377_4379del MANE Select	ENSP00000350283.3:p.Lys1459_Ser1460delinsAsn
ENST00000471181.7:c.4440_4442del	ENSP00000418960.2:p.Lys1480_Ser1481delinsAsn
ENST00000644379.1:c.764_766del
ENST00000352993.7:c.951_953del	ENSP00000312236.5:p.Lys317_Ser318delinsAsn
ENST00000357654.7:c.4377_4379del	ENSP00000350283.3:p.Lys1459_Ser1460delinsAsn
ENST00000461221.5:c.*4160_*4162del	ENSP00000418548.1:n.*4160_*4162del
ENST00000461574.1:c.668_670del
ENST00000468300.5:c.1065_1067del	ENSP00000417148.1:p.Lys355_Ser356delinsAsn
ENST00000471181.6:c.4440_4442del	ENSP00000418960.2:p.Lys1480_Ser1481delinsAsn
ENST00000478531.5:c.1065_1067del	ENSP00000420412.1:p.Lys355_Ser356delinsAsn
ENST00000484087.5:c.690_692del	ENSP00000419481.1:p.Lys230_Ser231delinsAsn
ENST00000487825.5:c.693_695del	ENSP00000418212.1:p.Lys231_Ser232delinsAsn
ENST00000491747.6:c.1065_1067del	ENSP00000420705.2:p.Lys355_Ser356delinsAsn
ENST00000493795.5:c.4236_4238del	ENSP00000418775.1:p.Lys1412_Ser1413delinsAsn
ENST00000493919.5:c.927_929del	ENSP00000418819.1:p.Lys309_Ser310delinsAsn
ENST00000586385.5:c.5-12644_5-12642del	ENSP00000465818.1:n.5-12644_5-12642del
ENST00000591534.5:c.-43-2074_-43-2072del	ENSP00000467329.1:n.-43-2074_-43-2072del
ENST00000591849.5:c.-98-26405_-98-26403del	ENSP00000465347.1:n.-98-26405_-98-26403del
ENST00000621897.1:n.268_270del
NM_007294.3:c.4377_4379del , LRG_292t1:c.4377_4379del	NP_009225.1:p.Lys1459_Ser1460delinsAsn
NM_007297.3:c.4236_4238del	NP_009228.2:p.Lys1412_Ser1413delinsAsn
NM_007298.3:c.1065_1067del	NP_009229.2:p.Lys355_Ser356delinsAsn
NM_007299.3:c.1065_1067del	NP_009230.2:p.Lys355_Ser356delinsAsn
NM_007300.3:c.4440_4442del	NP_009231.2:p.Lys1480_Ser1481delinsAsn
NR_027676.1:n.4513_4515del
NM_007294.4:c.4377_4379del MANE Select	NP_009225.1:p.Lys1459_Ser1460delinsAsn
NM_007297.4:c.4236_4238del	NP_009228.2:p.Lys1412_Ser1413delinsAsn
NM_007299.4:c.1065_1067del	NP_009230.2:p.Lys355_Ser356delinsAsn
NM_007300.4:c.4440_4442del	NP_009231.2:p.Lys1480_Ser1481delinsAsn
NR_027676.2:n.4554_4556del