Canonical Allele Identifier: CA001301

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 54416
• ClinVar RCV Id: RCV002250528
• dbSNP Id: rs80357522
• MyVariant Identifiers: chr17:g.41245587_41245588del (hg19) ; chr17:g.43093570_43093571del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093576_43093577del , CM000679.2:g.43093576_43093577del	GRCh38
NC_000017.10:g.41245593_41245594del , CM000679.1:g.41245593_41245594del	GRCh37
NC_000017.9:g.38499119_38499120del	NCBI36
NG_005905.2:g.124413_124414del , LRG_292:g.124413_124414del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.2024_2025del
ENST00000461574.2:c.1960_1961del	ENSP00000417241.2:p.Lys654ValfsTer18
ENST00000470026.6:c.1960_1961del	ENSP00000419274.2:p.Lys654ValfsTer18
ENST00000473961.6:c.1834_1835del	ENSP00000420201.2:p.Lys612ValfsTer18
ENST00000476777.6:c.1957_1958del	ENSP00000417554.2:p.Lys653ValfsTer18
ENST00000477152.6:c.1882_1883del	ENSP00000419988.2:p.Lys628ValfsTer18
ENST00000478531.6:c.784+1173_784+1174del	ENSP00000420412.2:n.784+1173_784+1174del
ENST00000489037.2:c.1882_1883del	ENSP00000420781.2:p.Lys628ValfsTer18
ENST00000493919.6:c.646+1173_646+1174del	ENSP00000418819.2:n.646+1173_646+1174del
ENST00000494123.6:c.1960_1961del	ENSP00000419103.2:p.Lys654ValfsTer18
ENST00000497488.2:c.1072_1073del	ENSP00000418986.2:p.Lys358ValfsTer18
ENST00000618469.2:c.1960_1961del	ENSP00000478114.2:p.Lys654ValfsTer18
ENST00000634433.2:c.1837_1838del	ENSP00000489431.2:p.Lys613ValfsTer18
ENST00000644379.2:c.1960_1961del	ENSP00000496570.2:p.Lys654ValfsTer18
ENST00000644555.2:c.646+1173_646+1174del	ENSP00000494614.2:n.646+1173_646+1174del
ENST00000652672.2:c.1819_1820del	ENSP00000498906.2:p.Lys607ValfsTer18
ENST00000484087.6:c.664+1173_664+1174del	ENSP00000419481.2:n.664+1173_664+1174del
ENST00000700182.1:c.706+1173_706+1174del	ENSP00000514849.1:n.706+1173_706+1174del
ENST00000357654.9:c.1960_1961del MANE Select	ENSP00000350283.3:p.Lys654ValfsTer18
ENST00000471181.7:c.1960_1961del	ENSP00000418960.2:p.Lys654ValfsTer18
ENST00000352993.7:c.670+2275_670+2276del	ENSP00000312236.5:n.670+2275_670+2276del
ENST00000354071.7:c.1960_1961del	ENSP00000326002.7:p.Lys654ValfsTer18
ENST00000357654.7:c.1960_1961del	ENSP00000350283.3:p.Lys654ValfsTer18
ENST00000412061.3:c.1311_1312del
ENST00000461221.5:c.*1743_*1744del	ENSP00000418548.1:n.*1743_*1744del
ENST00000468300.5:c.787+1173_787+1174del	ENSP00000417148.1:n.787+1173_787+1174del
ENST00000471181.6:c.1960_1961del	ENSP00000418960.2:p.Lys654ValfsTer18
ENST00000478531.5:c.784+1173_784+1174del	ENSP00000420412.1:n.784+1173_784+1174del
ENST00000484087.5:c.409+1173_409+1174del	ENSP00000419481.1:n.409+1173_409+1174del
ENST00000487825.5:c.412+1173_412+1174del	ENSP00000418212.1:n.412+1173_412+1174del
ENST00000491747.6:c.787+1173_787+1174del	ENSP00000420705.2:n.787+1173_787+1174del
ENST00000493795.5:c.1819_1820del	ENSP00000418775.1:p.Lys607ValfsTer18
ENST00000493919.5:c.646+1173_646+1174del	ENSP00000418819.1:n.646+1173_646+1174del
ENST00000586385.5:c.5-29620_5-29619del	ENSP00000465818.1:n.5-29620_5-29619del
ENST00000591534.5:c.-43-19050_-43-19049del	ENSP00000467329.1:n.-43-19050_-43-19049de...
ENST00000591849.5:c.-99+31700_-99+31701del	ENSP00000465347.1:n.-99+31700_-99+31701de...
ENST00000634433.1:c.1837_1838del	ENSP00000489431.1:p.Lys613ValfsTer18
NM_007294.3:c.1960_1961del , LRG_292t1:c.1960_1961del	NP_009225.1:p.Lys654ValfsTer18
NM_007297.3:c.1819_1820del	NP_009228.2:p.Lys607ValfsTer18
NM_007298.3:c.787+1173_787+1174del	NP_009229.2:n.787+1173_787+1174del
NM_007299.3:c.787+1173_787+1174del	NP_009230.2:n.787+1173_787+1174del
NM_007300.3:c.1960_1961del	NP_009231.2:p.Lys654ValfsTer18
NR_027676.1:n.2096_2097del
NM_007294.4:c.1960_1961del MANE Select	NP_009225.1:p.Lys654ValfsTer18
NM_007297.4:c.1819_1820del	NP_009228.2:p.Lys607ValfsTer18
NM_007299.4:c.787+1173_787+1174del	NP_009230.2:n.787+1173_787+1174del
NM_007300.4:c.1960_1961del	NP_009231.2:p.Lys654ValfsTer18
NR_027676.2:n.2137_2138del