Canonical Allele Identifier: CA16616888

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 417830
• ClinVar RCV Id: RCV000477912 ; RCV001381248
• dbSNP Id: rs1060505050
• MyVariant Identifiers: chr17:g.41246113_41246114del (hg19) ; chr17:g.43094096_43094097del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094096_43094097del , CM000679.2:g.43094096_43094097del	GRCh38
NC_000017.10:g.41246113_41246114del , CM000679.1:g.41246113_41246114del	GRCh37
NC_000017.9:g.38499639_38499640del	NCBI36
NG_005905.2:g.123887_123888del , LRG_292:g.123887_123888del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.1498_1499del
ENST00000461574.2:c.1434_1435del	ENSP00000417241.2:p.Glu479LysfsTer10
ENST00000470026.6:c.1434_1435del	ENSP00000419274.2:p.Glu479LysfsTer10
ENST00000473961.6:c.1308_1309del	ENSP00000420201.2:p.Glu437LysfsTer10
ENST00000476777.6:c.1431_1432del	ENSP00000417554.2:p.Glu478LysfsTer10
ENST00000477152.6:c.1356_1357del	ENSP00000419988.2:p.Glu453LysfsTer10
ENST00000478531.6:c.784+647_784+648del	ENSP00000420412.2:n.784+647_784+648del
ENST00000489037.2:c.1356_1357del	ENSP00000420781.2:p.Glu453LysfsTer10
ENST00000493919.6:c.646+647_646+648del	ENSP00000418819.2:n.646+647_646+648del
ENST00000494123.6:c.1434_1435del	ENSP00000419103.2:p.Glu479LysfsTer10
ENST00000497488.2:c.546_547del	ENSP00000418986.2:p.Glu183LysfsTer10
ENST00000618469.2:c.1434_1435del	ENSP00000478114.2:p.Glu479LysfsTer10
ENST00000634433.2:c.1311_1312del	ENSP00000489431.2:p.Glu438LysfsTer10
ENST00000644379.2:c.1434_1435del	ENSP00000496570.2:p.Glu479LysfsTer10
ENST00000644555.2:c.646+647_646+648del	ENSP00000494614.2:n.646+647_646+648del
ENST00000652672.2:c.1293_1294del	ENSP00000498906.2:p.Glu432LysfsTer10
ENST00000484087.6:c.664+647_664+648del	ENSP00000419481.2:n.664+647_664+648del
ENST00000700182.1:c.706+647_706+648del	ENSP00000514849.1:n.706+647_706+648del
ENST00000700183.1:c.*1442_*1443del	ENSP00000514850.1:n.*1442_*1443del
ENST00000357654.9:c.1434_1435del MANE Select	ENSP00000350283.3:p.Glu479LysfsTer10
ENST00000471181.7:c.1434_1435del	ENSP00000418960.2:p.Glu479LysfsTer10
ENST00000652672.1:c.1293_1294del	ENSP00000498906.1:p.Glu432LysfsTer10
ENST00000352993.7:c.670+1749_670+1750del	ENSP00000312236.5:n.670+1749_670+1750del
ENST00000354071.7:c.1434_1435del	ENSP00000326002.7:p.Glu479LysfsTer10
ENST00000357654.7:c.1434_1435del	ENSP00000350283.3:p.Glu479LysfsTer10
ENST00000412061.3:c.785_786del
ENST00000461221.5:c.*1217_*1218del	ENSP00000418548.1:n.*1217_*1218del
ENST00000468300.5:c.787+647_787+648del	ENSP00000417148.1:n.787+647_787+648del
ENST00000470026.5:c.1434_1435del	ENSP00000419274.1:p.Glu479LysfsTer10
ENST00000471181.6:c.1434_1435del	ENSP00000418960.2:p.Glu479LysfsTer10
ENST00000477152.5:c.1356_1357del	ENSP00000419988.1:p.Glu453LysfsTer10
ENST00000478531.5:c.784+647_784+648del	ENSP00000420412.1:n.784+647_784+648del
ENST00000484087.5:c.409+647_409+648del	ENSP00000419481.1:n.409+647_409+648del
ENST00000487825.5:c.412+647_412+648del	ENSP00000418212.1:n.412+647_412+648del
ENST00000491747.6:c.787+647_787+648del	ENSP00000420705.2:n.787+647_787+648del
ENST00000493795.5:c.1293_1294del	ENSP00000418775.1:p.Glu432LysfsTer10
ENST00000493919.5:c.646+647_646+648del	ENSP00000418819.1:n.646+647_646+648del
ENST00000586385.5:c.5-30146_5-30145del	ENSP00000465818.1:n.5-30146_5-30145del
ENST00000591534.5:c.-43-19576_-43-19575del	ENSP00000467329.1:n.-43-19576_-43-19575del
ENST00000591849.5:c.-99+31174_-99+31175del	ENSP00000465347.1:n.-99+31174_-99+31175del
ENST00000634433.1:c.1311_1312del	ENSP00000489431.1:p.Glu438LysfsTer10
NM_007294.3:c.1434_1435del , LRG_292t1:c.1434_1435del	NP_009225.1:p.Glu479LysfsTer10
NM_007297.3:c.1293_1294del	NP_009228.2:p.Glu432LysfsTer10
NM_007298.3:c.787+647_787+648del	NP_009229.2:n.787+647_787+648del
NM_007299.3:c.787+647_787+648del	NP_009230.2:n.787+647_787+648del
NM_007300.3:c.1434_1435del	NP_009231.2:p.Glu479LysfsTer10
NR_027676.1:n.1570_1571del
NM_007294.4:c.1434_1435del MANE Select	NP_009225.1:p.Glu479LysfsTer10
NM_007297.4:c.1293_1294del	NP_009228.2:p.Glu432LysfsTer10
NM_007299.4:c.787+647_787+648del	NP_009230.2:n.787+647_787+648del
NM_007300.4:c.1434_1435del	NP_009231.2:p.Glu479LysfsTer10
NR_027676.2:n.1611_1612del