Canonical Allele Identifier: CA10589917

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 266192
• ClinVar RCV Id: RCV000257691
• dbSNP Id: rs397508911
• MyVariant Identifiers: chr17:g.41245725_41245728del (hg19) ; chr17:g.43093708_43093711del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093709_43093712del , CM000679.2:g.43093709_43093712del	GRCh38
NC_000017.10:g.41245726_41245729del , CM000679.1:g.41245726_41245729del	GRCh37
NC_000017.9:g.38499252_38499255del	NCBI36
NG_005905.2:g.124273_124276del , LRG_292:g.124273_124276del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.1884_1887del
ENST00000461574.2:c.1820_1823del	ENSP00000417241.2:p.Lys607ArgfsTer4
ENST00000470026.6:c.1820_1823del	ENSP00000419274.2:p.Lys607ArgfsTer4
ENST00000473961.6:c.1694_1697del	ENSP00000420201.2:p.Lys565ArgfsTer4
ENST00000476777.6:c.1817_1820del	ENSP00000417554.2:p.Lys606ArgfsTer4
ENST00000477152.6:c.1742_1745del	ENSP00000419988.2:p.Lys581ArgfsTer4
ENST00000478531.6:c.784+1033_784+1036del	ENSP00000420412.2:n.784+1033_784+1036del
ENST00000489037.2:c.1742_1745del	ENSP00000420781.2:p.Lys581ArgfsTer4
ENST00000493919.6:c.646+1033_646+1036del	ENSP00000418819.2:n.646+1033_646+1036del
ENST00000494123.6:c.1820_1823del	ENSP00000419103.2:p.Lys607ArgfsTer4
ENST00000497488.2:c.932_935del	ENSP00000418986.2:p.Lys311ArgfsTer4
ENST00000618469.2:c.1820_1823del	ENSP00000478114.2:p.Lys607ArgfsTer4
ENST00000634433.2:c.1697_1700del	ENSP00000489431.2:p.Lys566ArgfsTer4
ENST00000644379.2:c.1820_1823del	ENSP00000496570.2:p.Lys607ArgfsTer4
ENST00000644555.2:c.646+1033_646+1036del	ENSP00000494614.2:n.646+1033_646+1036del
ENST00000652672.2:c.1679_1682del	ENSP00000498906.2:p.Lys560ArgfsTer4
ENST00000484087.6:c.664+1033_664+1036del	ENSP00000419481.2:n.664+1033_664+1036del
ENST00000700182.1:c.706+1033_706+1036del	ENSP00000514849.1:n.706+1033_706+1036del
ENST00000357654.9:c.1820_1823del MANE Select	ENSP00000350283.3:p.Lys607ArgfsTer4
ENST00000471181.7:c.1820_1823del	ENSP00000418960.2:p.Lys607ArgfsTer4
ENST00000652672.1:c.1679_1682del	ENSP00000498906.1:p.Lys560ArgfsTer4
ENST00000352993.7:c.670+2135_670+2138del	ENSP00000312236.5:n.670+2135_670+2138del
ENST00000354071.7:c.1820_1823del	ENSP00000326002.7:p.Lys607ArgfsTer4
ENST00000357654.7:c.1820_1823del	ENSP00000350283.3:p.Lys607ArgfsTer4
ENST00000412061.3:c.1171_1174del
ENST00000461221.5:c.*1603_*1606del	ENSP00000418548.1:n.*1603_*1606del
ENST00000468300.5:c.787+1033_787+1036del	ENSP00000417148.1:n.787+1033_787+1036del
ENST00000470026.5:c.1820_1823del	ENSP00000419274.1:p.Lys607ArgfsTer4
ENST00000471181.6:c.1820_1823del	ENSP00000418960.2:p.Lys607ArgfsTer4
ENST00000477152.5:c.1742_1745del	ENSP00000419988.1:p.Lys581ArgfsTer4
ENST00000478531.5:c.784+1033_784+1036del	ENSP00000420412.1:n.784+1033_784+1036del
ENST00000484087.5:c.409+1033_409+1036del	ENSP00000419481.1:n.409+1033_409+1036del
ENST00000487825.5:c.412+1033_412+1036del	ENSP00000418212.1:n.412+1033_412+1036del
ENST00000491747.6:c.787+1033_787+1036del	ENSP00000420705.2:n.787+1033_787+1036del
ENST00000493795.5:c.1679_1682del	ENSP00000418775.1:p.Lys560ArgfsTer4
ENST00000493919.5:c.646+1033_646+1036del	ENSP00000418819.1:n.646+1033_646+1036del
ENST00000586385.5:c.5-29760_5-29757del	ENSP00000465818.1:n.5-29760_5-29757del
ENST00000591534.5:c.-43-19190_-43-19187del	ENSP00000467329.1:n.-43-19190_-43-19187del
ENST00000591849.5:c.-99+31560_-99+31563del	ENSP00000465347.1:n.-99+31560_-99+31563del
ENST00000634433.1:c.1697_1700del	ENSP00000489431.1:p.Lys566ArgfsTer4
NM_007294.3:c.1820_1823del , LRG_292t1:c.1820_1823del	NP_009225.1:p.Lys607ArgfsTer4
NM_007297.3:c.1679_1682del	NP_009228.2:p.Lys560ArgfsTer4
NM_007298.3:c.787+1033_787+1036del	NP_009229.2:n.787+1033_787+1036del
NM_007299.3:c.787+1033_787+1036del	NP_009230.2:n.787+1033_787+1036del
NM_007300.3:c.1820_1823del	NP_009231.2:p.Lys607ArgfsTer4
NR_027676.1:n.1956_1959del
NM_007294.4:c.1820_1823del MANE Select	NP_009225.1:p.Lys607ArgfsTer4
NM_007297.4:c.1679_1682del	NP_009228.2:p.Lys560ArgfsTer4
NM_007299.4:c.787+1033_787+1036del	NP_009230.2:n.787+1033_787+1036del
NM_007300.4:c.1820_1823del	NP_009231.2:p.Lys607ArgfsTer4
NR_027676.2:n.1997_2000del