Canonical Allele Identifier: CA10586093

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 252863
• ClinVar RCV Id: RCV000238667 ; RCV000496818 ; RCV003165676 ; RCV002392750 ; RCV002479951
• dbSNP Id: rs879255476
• MyVariant Identifiers: chr17:g.41246140_41246141del (hg19) ; chr17:g.43094123_43094124del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094123_43094124del , CM000679.2:g.43094123_43094124del	GRCh38
NC_000017.10:g.41246140_41246141del , CM000679.1:g.41246140_41246141del	GRCh37
NC_000017.9:g.38499666_38499667del	NCBI36
NG_005905.2:g.123860_123861del , LRG_292:g.123860_123861del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.1471_1472del
ENST00000461574.2:c.1407_1408del	ENSP00000417241.2:p.Ser470ProfsTer9
ENST00000470026.6:c.1407_1408del	ENSP00000419274.2:p.Ser470ProfsTer9
ENST00000473961.6:c.1281_1282del	ENSP00000420201.2:p.Ser428ProfsTer9
ENST00000476777.6:c.1404_1405del	ENSP00000417554.2:p.Ser469ProfsTer9
ENST00000477152.6:c.1329_1330del	ENSP00000419988.2:p.Ser444ProfsTer9
ENST00000478531.6:c.784+620_784+621del	ENSP00000420412.2:n.784+620_784+621del
ENST00000489037.2:c.1329_1330del	ENSP00000420781.2:p.Ser444ProfsTer9
ENST00000493919.6:c.646+620_646+621del	ENSP00000418819.2:n.646+620_646+621del
ENST00000494123.6:c.1407_1408del	ENSP00000419103.2:p.Ser470ProfsTer9
ENST00000497488.2:c.519_520del	ENSP00000418986.2:p.Ser174ProfsTer9
ENST00000618469.2:c.1407_1408del	ENSP00000478114.2:p.Ser470ProfsTer9
ENST00000634433.2:c.1284_1285del	ENSP00000489431.2:p.Ser429ProfsTer9
ENST00000644379.2:c.1407_1408del	ENSP00000496570.2:p.Ser470ProfsTer9
ENST00000644555.2:c.646+620_646+621del	ENSP00000494614.2:n.646+620_646+621del
ENST00000652672.2:c.1266_1267del	ENSP00000498906.2:p.Ser423ProfsTer9
ENST00000484087.6:c.664+620_664+621del	ENSP00000419481.2:n.664+620_664+621del
ENST00000700182.1:c.706+620_706+621del	ENSP00000514849.1:n.706+620_706+621del
ENST00000700183.1:c.*1415_*1416del	ENSP00000514850.1:n.*1415_*1416del
ENST00000357654.9:c.1407_1408del MANE Select	ENSP00000350283.3:p.Ser470ProfsTer9
ENST00000471181.7:c.1407_1408del	ENSP00000418960.2:p.Ser470ProfsTer9
ENST00000652672.1:c.1266_1267del	ENSP00000498906.1:p.Ser423ProfsTer9
ENST00000352993.7:c.670+1722_670+1723del	ENSP00000312236.5:n.670+1722_670+1723del
ENST00000354071.7:c.1407_1408del	ENSP00000326002.7:p.Ser470ProfsTer9
ENST00000357654.7:c.1407_1408del	ENSP00000350283.3:p.Ser470ProfsTer9
ENST00000412061.3:c.758_759del
ENST00000461221.5:c.*1190_*1191del	ENSP00000418548.1:n.*1190_*1191del
ENST00000468300.5:c.787+620_787+621del	ENSP00000417148.1:n.787+620_787+621del
ENST00000470026.5:c.1407_1408del	ENSP00000419274.1:p.Ser470ProfsTer9
ENST00000471181.6:c.1407_1408del	ENSP00000418960.2:p.Ser470ProfsTer9
ENST00000477152.5:c.1329_1330del	ENSP00000419988.1:p.Ser444ProfsTer9
ENST00000478531.5:c.784+620_784+621del	ENSP00000420412.1:n.784+620_784+621del
ENST00000484087.5:c.409+620_409+621del	ENSP00000419481.1:n.409+620_409+621del
ENST00000487825.5:c.412+620_412+621del	ENSP00000418212.1:n.412+620_412+621del
ENST00000491747.6:c.787+620_787+621del	ENSP00000420705.2:n.787+620_787+621del
ENST00000492859.5:c.*1343_*1344del	ENSP00000420253.1:n.*1343_*1344del
ENST00000493795.5:c.1266_1267del	ENSP00000418775.1:p.Ser423ProfsTer9
ENST00000493919.5:c.646+620_646+621del	ENSP00000418819.1:n.646+620_646+621del
ENST00000494123.5:c.1407_1408del	ENSP00000419103.1:p.Ser470ProfsTer?
ENST00000497488.1:c.519_520del	ENSP00000418986.1:p.Ser174ProfsTer?
ENST00000586385.5:c.5-30173_5-30172del	ENSP00000465818.1:n.5-30173_5-30172del
ENST00000591534.5:c.-43-19603_-43-19602del	ENSP00000467329.1:n.-43-19603_-43-19602del
ENST00000591849.5:c.-99+31147_-99+31148del	ENSP00000465347.1:n.-99+31147_-99+31148del
ENST00000634433.1:c.1284_1285del	ENSP00000489431.1:p.Ser429ProfsTer9
NM_007294.3:c.1407_1408del , LRG_292t1:c.1407_1408del	NP_009225.1:p.Ser470ProfsTer9
NM_007297.3:c.1266_1267del	NP_009228.2:p.Ser423ProfsTer9
NM_007298.3:c.787+620_787+621del	NP_009229.2:n.787+620_787+621del
NM_007299.3:c.787+620_787+621del	NP_009230.2:n.787+620_787+621del
NM_007300.3:c.1407_1408del	NP_009231.2:p.Ser470ProfsTer9
NR_027676.1:n.1543_1544del
NM_007294.4:c.1407_1408del MANE Select	NP_009225.1:p.Ser470ProfsTer9
NM_007297.4:c.1266_1267del	NP_009228.2:p.Ser423ProfsTer9
NM_007299.4:c.787+620_787+621del	NP_009230.2:n.787+620_787+621del
NM_007300.4:c.1407_1408del	NP_009231.2:p.Ser470ProfsTer9
NR_027676.2:n.1584_1585del