Canonical Allele Identifier: CA2580094117

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1744770
• ClinVar RCV Id: RCV002351383

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067668_43067670del , CM000679.2:g.43067668_43067670del	GRCh38
NC_000017.10:g.41219685_41219687del , CM000679.1:g.41219685_41219687del	GRCh37
NC_000017.9:g.38473211_38473213del	NCBI36
NG_005905.2:g.150315_150317del , LRG_292:g.150315_150317del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5010_5012del	ENSP00000417241.2:p.Lys1670_His1671delinsAsn
ENST00000470026.6:c.5013_5015del	ENSP00000419274.2:p.Lys1671_His1672delinsAsn
ENST00000473961.6:c.4887_4889del	ENSP00000420201.2:p.Lys1629_His1630delinsAsn
ENST00000476777.6:c.5007_5009del	ENSP00000417554.2:p.Lys1669_His1670delinsAsn
ENST00000477152.6:c.4935_4937del	ENSP00000419988.2:p.Lys1645_His1646delinsAsn
ENST00000478531.6:c.1701_1703del	ENSP00000420412.2:p.Lys567_His568delinsAsn
ENST00000489037.2:c.4935_4937del	ENSP00000420781.2:p.Lys1645_His1646delinsAsn
ENST00000493919.6:c.1563_1565del	ENSP00000418819.2:p.Lys521_His522delinsAsn
ENST00000494123.6:c.5013_5015del	ENSP00000419103.2:p.Lys1671_His1672delinsAsn
ENST00000497488.2:c.4125_4127del	ENSP00000418986.2:p.Lys1375_His1376delinsAsn
ENST00000618469.2:c.5013_5015del	ENSP00000478114.2:p.Lys1671_His1672delinsAsn
ENST00000634433.2:c.4890_4892del	ENSP00000489431.2:p.Lys1630_His1631delinsAsn
ENST00000644379.2:c.5079_5081del	ENSP00000496570.2:p.Lys1693_His1694delinsAsn
ENST00000644555.2:c.1563_1565del	ENSP00000494614.2:p.Lys521_His522delinsAsn
ENST00000652672.2:c.4872_4874del	ENSP00000498906.2:p.Lys1624_His1625delinsAsn
ENST00000484087.6:c.1575_1577del	ENSP00000419481.2:p.Lys525_His526delinsAsn
ENST00000357654.9:c.5013_5015del MANE Select	ENSP00000350283.3:p.Lys1671_His1672delinsAsn
ENST00000471181.7:c.5076_5078del	ENSP00000418960.2:p.Lys1692_His1693delinsAsn
ENST00000644379.1:c.1400_1402del
ENST00000352993.7:c.1587_1589del	ENSP00000312236.5:p.Lys529_His530delinsAsn
ENST00000357654.7:c.5013_5015del	ENSP00000350283.3:p.Lys1671_His1672delinsAsn
ENST00000461221.5:c.*4796_*4798del	ENSP00000418548.1:n.*4796_*4798del
ENST00000468300.5:c.1701_1703del	ENSP00000417148.1:p.Lys567_His568delinsAsn
ENST00000471181.6:c.5076_5078del	ENSP00000418960.2:p.Lys1692_His1693delinsAsn
ENST00000472490.1:n.166_168del
ENST00000478531.5:c.1701_1703del	ENSP00000420412.1:p.Lys567_His568delinsAsn
ENST00000484087.5:c.1326_1328del	ENSP00000419481.1:p.Lys442_His443delinsAsn
ENST00000491747.6:c.1701_1703del	ENSP00000420705.2:p.Lys567_His568delinsAsn
ENST00000493795.5:c.4872_4874del	ENSP00000418775.1:p.Lys1624_His1625delinsAsn
ENST00000493919.5:c.1563_1565del	ENSP00000418819.1:p.Lys521_His522delinsAsn
ENST00000586385.5:c.5-3718_5-3716del	ENSP00000465818.1:n.5-3718_5-3716del
ENST00000591534.5:c.486_488del	ENSP00000467329.1:p.Lys162_His163delinsAsn
ENST00000591849.5:c.-98-17479_-98-17477del	ENSP00000465347.1:n.-98-17479_-98-17477del
NM_007294.3:c.5013_5015del , LRG_292t1:c.5013_5015del	NP_009225.1:p.Lys1671_His1672delinsAsn
NM_007297.3:c.4872_4874del	NP_009228.2:p.Lys1624_His1625delinsAsn
NM_007298.3:c.1701_1703del	NP_009229.2:p.Lys567_His568delinsAsn
NM_007299.3:c.1701_1703del	NP_009230.2:p.Lys567_His568delinsAsn
NM_007300.3:c.5076_5078del	NP_009231.2:p.Lys1692_His1693delinsAsn
NR_027676.1:n.5149_5151del
NM_007294.4:c.5013_5015del MANE Select	NP_009225.1:p.Lys1671_His1672delinsAsn
NM_007297.4:c.4872_4874del	NP_009228.2:p.Lys1624_His1625delinsAsn
NM_007299.4:c.1701_1703del	NP_009230.2:p.Lys567_His568delinsAsn
NM_007300.4:c.5076_5078del	NP_009231.2:p.Lys1692_His1693delinsAsn
NR_027676.2:n.5190_5192del