Canonical Allele Identifier: CA10586110
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 252882
ClinVar RCV Id: RCV000239064
dbSNP Id: rs879255490

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43071026_43071027del , CM000679.2:g.43071026_43071027del GRCh38
NC_000017.10:g.41223043_41223044del , CM000679.1:g.41223043_41223044del GRCh37
NC_000017.9:g.38476569_38476570del NCBI36
NG_005905.2:g.146958_146959del , LRG_292:g.146958_146959del

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.4885_4886del ENSP00000417241.2:p.Glu1629LysfsTer?
ENST00000470026.6:c.4888_4889del ENSP00000419274.2:p.Glu1630LysfsTer?
ENST00000473961.6:c.4762_4763del ENSP00000420201.2:p.Glu1588LysfsTer?
ENST00000476777.6:c.4882_4883del ENSP00000417554.2:p.Glu1628LysfsTer?
ENST00000477152.6:c.4810_4811del ENSP00000419988.2:p.Glu1604LysfsTer?
ENST00000478531.6:c.1576_1577del ENSP00000420412.2:p.Glu526LysfsTer?
ENST00000489037.2:c.4810_4811del ENSP00000420781.2:p.Glu1604LysfsTer?
ENST00000493919.6:c.1438_1439del ENSP00000418819.2:p.Glu480LysfsTer?
ENST00000494123.6:c.4888_4889del ENSP00000419103.2:p.Glu1630LysfsTer?
ENST00000497488.2:c.4000_4001del ENSP00000418986.2:p.Glu1334LysfsTer?
ENST00000618469.2:c.4888_4889del ENSP00000478114.2:p.Glu1630LysfsTer?
ENST00000634433.2:c.4765_4766del ENSP00000489431.2:p.Glu1589LysfsTer?
ENST00000644379.2:c.4954_4955del ENSP00000496570.2:p.Glu1652LysfsTer?
ENST00000644555.2:c.1438_1439del ENSP00000494614.2:p.Glu480LysfsTer?
ENST00000652672.2:c.4747_4748del ENSP00000498906.2:p.Glu1583LysfsTer?
ENST00000484087.6:c.1450_1451del ENSP00000419481.2:p.Glu484LysfsTer?
ENST00000700182.1:c.1495_1496del ENSP00000514849.1:p.Glu499LysfsTer?
ENST00000357654.9:c.4888_4889del MANE Select ENSP00000350283.3:p.Glu1630LysfsTer?
ENST00000471181.7:c.4951_4952del ENSP00000418960.2:p.Glu1651LysfsTer?
ENST00000644379.1:c.1275_1276del
ENST00000352993.7:c.1462_1463del ENSP00000312236.5:p.Glu488LysfsTer?
ENST00000357654.7:c.4888_4889del ENSP00000350283.3:p.Glu1630LysfsTer?
ENST00000461221.5:c.*4671_*4672del ENSP00000418548.1:n.*4671_*4672del
ENST00000468300.5:c.1576_1577del ENSP00000417148.1:p.Glu526LysfsTer?
ENST00000471181.6:c.4951_4952del ENSP00000418960.2:p.Glu1651LysfsTer?
ENST00000472490.1:n.41_42del
ENST00000478531.5:c.1576_1577del ENSP00000420412.1:p.Glu526LysfsTer?
ENST00000484087.5:c.1201_1202del ENSP00000419481.1:p.Glu401LysfsTer?
ENST00000491747.6:c.1576_1577del ENSP00000420705.2:p.Glu526LysfsTer?
ENST00000493795.5:c.4747_4748del ENSP00000418775.1:p.Glu1583LysfsTer?
ENST00000493919.5:c.1438_1439del ENSP00000418819.1:p.Glu480LysfsTer?
ENST00000586385.5:c.5-7075_5-7074del ENSP00000465818.1:n.5-7075_5-7074del
ENST00000591534.5:c.361_362del ENSP00000467329.1:p.Glu121LysfsTer?
ENST00000591849.5:c.-98-20836_-98-20835del ENSP00000465347.1:n.-98-20836_-98-20835de...
NM_007294.3:c.4888_4889del , LRG_292t1:c.4888_4889del NP_009225.1:p.Glu1630LysfsTer?
NM_007297.3:c.4747_4748del NP_009228.2:p.Glu1583LysfsTer?
NM_007298.3:c.1576_1577del NP_009229.2:p.Glu526LysfsTer?
NM_007299.3:c.1576_1577del NP_009230.2:p.Glu526LysfsTer?
NM_007300.3:c.4951_4952del NP_009231.2:p.Glu1651LysfsTer?
NR_027676.1:n.5024_5025del
NM_007294.4:c.4888_4889del MANE Select NP_009225.1:p.Glu1630LysfsTer?
NM_007297.4:c.4747_4748del NP_009228.2:p.Glu1583LysfsTer?
NM_007299.4:c.1576_1577del NP_009230.2:p.Glu526LysfsTer?
NM_007300.4:c.4951_4952del NP_009231.2:p.Glu1651LysfsTer?
NR_027676.2:n.5065_5066del