Canonical Allele Identifier: CA026486

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 54181
• ClinVar RCV Id: RCV001386708
• dbSNP Id: rs397508850
• MyVariant Identifiers: chr17:g.41246282_41246283dupAT (hg19) ; chr17:g.41246281_41246282insAT (hg19) ; chr17:g.43094265_43094266dupAT (hg38) ; chr17:g.43094264_43094265insAT (hg38)
• PubMed: PMID:22486713

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094267_43094268dup , CM000679.2:g.43094267_43094268dup	GRCh38
NC_000017.10:g.41246284_41246285dup , CM000679.1:g.41246284_41246285dup	GRCh37
NC_000017.9:g.38499810_38499811dup	NCBI36
NG_005905.2:g.123718_123719dup , LRG_292:g.123718_123719dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.1329_1330dup
ENST00000461574.2:c.1265_1266dup	ENSP00000417241.2:p.Ser423IlefsTer8
ENST00000470026.6:c.1265_1266dup	ENSP00000419274.2:p.Ser423IlefsTer8
ENST00000473961.6:c.1139_1140dup	ENSP00000420201.2:p.Ser381IlefsTer8
ENST00000476777.6:c.1262_1263dup	ENSP00000417554.2:p.Ser422IlefsTer8
ENST00000477152.6:c.1187_1188dup	ENSP00000419988.2:p.Ser397IlefsTer8
ENST00000478531.6:c.784+478_784+479dup	ENSP00000420412.2:n.784+478_784+479dup
ENST00000489037.2:c.1187_1188dup	ENSP00000420781.2:p.Ser397IlefsTer8
ENST00000493919.6:c.646+478_646+479dup	ENSP00000418819.2:n.646+478_646+479dup
ENST00000494123.6:c.1265_1266dup	ENSP00000419103.2:p.Ser423IlefsTer8
ENST00000497488.2:c.377_378dup	ENSP00000418986.2:p.Ser127IlefsTer8
ENST00000618469.2:c.1265_1266dup	ENSP00000478114.2:p.Ser423IlefsTer8
ENST00000634433.2:c.1142_1143dup	ENSP00000489431.2:p.Ser382IlefsTer8
ENST00000644379.2:c.1265_1266dup	ENSP00000496570.2:p.Ser423IlefsTer8
ENST00000644555.2:c.646+478_646+479dup	ENSP00000494614.2:n.646+478_646+479dup
ENST00000652672.2:c.1124_1125dup	ENSP00000498906.2:p.Ser376IlefsTer8
ENST00000484087.6:c.664+478_664+479dup	ENSP00000419481.2:n.664+478_664+479dup
ENST00000700182.1:c.706+478_706+479dup	ENSP00000514849.1:n.706+478_706+479dup
ENST00000700183.1:c.*1273_*1274dup	ENSP00000514850.1:n.*1273_*1274dup
ENST00000357654.9:c.1265_1266dup MANE Select	ENSP00000350283.3:p.Ser423IlefsTer8
ENST00000471181.7:c.1265_1266dup	ENSP00000418960.2:p.Ser423IlefsTer8
ENST00000652672.1:c.1124_1125dup	ENSP00000498906.1:p.Ser376IlefsTer8
ENST00000352993.7:c.670+1580_670+1581dup	ENSP00000312236.5:n.670+1580_670+1581dup
ENST00000354071.7:c.1265_1266dup	ENSP00000326002.7:p.Ser423IlefsTer8
ENST00000357654.7:c.1265_1266dup	ENSP00000350283.3:p.Ser423IlefsTer8
ENST00000412061.3:c.616_617dup
ENST00000461221.5:c.*1048_*1049dup	ENSP00000418548.1:n.*1048_*1049dup
ENST00000468300.5:c.787+478_787+479dup	ENSP00000417148.1:n.787+478_787+479dup
ENST00000470026.5:c.1265_1266dup	ENSP00000419274.1:p.Ser423IlefsTer8
ENST00000471181.6:c.1265_1266dup	ENSP00000418960.2:p.Ser423IlefsTer8
ENST00000473961.5:c.862_863dup
ENST00000477152.5:c.1187_1188dup	ENSP00000419988.1:p.Ser397IlefsTer8
ENST00000478531.5:c.784+478_784+479dup	ENSP00000420412.1:n.784+478_784+479dup
ENST00000484087.5:c.409+478_409+479dup	ENSP00000419481.1:n.409+478_409+479dup
ENST00000487825.5:c.412+478_412+479dup	ENSP00000418212.1:n.412+478_412+479dup
ENST00000491747.6:c.787+478_787+479dup	ENSP00000420705.2:n.787+478_787+479dup
ENST00000492859.5:c.*1201_*1202dup	ENSP00000420253.1:n.*1201_*1202dup
ENST00000493795.5:c.1124_1125dup	ENSP00000418775.1:p.Ser376IlefsTer8
ENST00000493919.5:c.646+478_646+479dup	ENSP00000418819.1:n.646+478_646+479dup
ENST00000494123.5:c.1265_1266dup	ENSP00000419103.1:p.Ser423IlefsTer8
ENST00000497488.1:c.377_378dup	ENSP00000418986.1:p.Ser127IlefsTer8
ENST00000586385.5:c.5-30315_5-30314dup	ENSP00000465818.1:n.5-30315_5-30314dup
ENST00000591534.5:c.-43-19745_-43-19744dup	ENSP00000467329.1:n.-43-19745_-43-19744du...
ENST00000591849.5:c.-99+31005_-99+31006dup	ENSP00000465347.1:n.-99+31005_-99+31006du...
ENST00000634433.1:c.1142_1143dup	ENSP00000489431.1:p.Ser382IlefsTer8
NM_007294.3:c.1265_1266dup , LRG_292t1:c.1265_1266dup	NP_009225.1:p.Ser423IlefsTer8
NM_007297.3:c.1124_1125dup	NP_009228.2:p.Ser376IlefsTer8
NM_007298.3:c.787+478_787+479dup	NP_009229.2:n.787+478_787+479dup
NM_007299.3:c.787+478_787+479dup	NP_009230.2:n.787+478_787+479dup
NM_007300.3:c.1265_1266dup	NP_009231.2:p.Ser423IlefsTer8
NR_027676.1:n.1401_1402dup
NM_007294.4:c.1265_1266dup MANE Select	NP_009225.1:p.Ser423IlefsTer8
NM_007297.4:c.1124_1125dup	NP_009228.2:p.Ser376IlefsTer8
NM_007299.4:c.787+478_787+479dup	NP_009230.2:n.787+478_787+479dup
NM_007300.4:c.1265_1266dup	NP_009231.2:p.Ser423IlefsTer8
NR_027676.2:n.1442_1443dup