Canonical Allele Identifier: CA001296

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 54413
• ClinVar RCV Id: RCV002415502 ; RCV002514234
• dbSNP Id: rs80357522
• gnomAD v3: 17-43093569-CTTTT-C
• gnomAD v4: 17-43093569-CTTTT-C
• MyVariant Identifiers: chr17:g.41245587_41245590del (hg19) ; chr17:g.43093570_43093573del (hg38)
• PubMed: PMID:17688236

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093574_43093577del , CM000679.2:g.43093574_43093577del	GRCh38
NC_000017.10:g.41245591_41245594del , CM000679.1:g.41245591_41245594del	GRCh37
NC_000017.9:g.38499117_38499120del	NCBI36
NG_005905.2:g.124411_124414del , LRG_292:g.124411_124414del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.2022_2025del
ENST00000461574.2:c.1958_1961del	ENSP00000417241.2:p.Lys653SerfsTer?
ENST00000470026.6:c.1958_1961del	ENSP00000419274.2:p.Lys653SerfsTer?
ENST00000473961.6:c.1832_1835del	ENSP00000420201.2:p.Lys611SerfsTer?
ENST00000476777.6:c.1955_1958del	ENSP00000417554.2:p.Lys652SerfsTer?
ENST00000477152.6:c.1880_1883del	ENSP00000419988.2:p.Lys627SerfsTer?
ENST00000478531.6:c.784+1171_784+1174del	ENSP00000420412.2:n.784+1171_784+1174del
ENST00000489037.2:c.1880_1883del	ENSP00000420781.2:p.Lys627SerfsTer?
ENST00000493919.6:c.646+1171_646+1174del	ENSP00000418819.2:n.646+1171_646+1174del
ENST00000494123.6:c.1958_1961del	ENSP00000419103.2:p.Lys653SerfsTer?
ENST00000497488.2:c.1070_1073del	ENSP00000418986.2:p.Lys357SerfsTer?
ENST00000618469.2:c.1958_1961del	ENSP00000478114.2:p.Lys653SerfsTer?
ENST00000634433.2:c.1835_1838del	ENSP00000489431.2:p.Lys612SerfsTer?
ENST00000644379.2:c.1958_1961del	ENSP00000496570.2:p.Lys653SerfsTer?
ENST00000644555.2:c.646+1171_646+1174del	ENSP00000494614.2:n.646+1171_646+1174del
ENST00000652672.2:c.1817_1820del	ENSP00000498906.2:p.Lys606SerfsTer?
ENST00000484087.6:c.664+1171_664+1174del	ENSP00000419481.2:n.664+1171_664+1174del
ENST00000700182.1:c.706+1171_706+1174del	ENSP00000514849.1:n.706+1171_706+1174del
ENST00000357654.9:c.1958_1961del MANE Select	ENSP00000350283.3:p.Lys653SerfsTer?
ENST00000471181.7:c.1958_1961del	ENSP00000418960.2:p.Lys653SerfsTer?
ENST00000352993.7:c.670+2273_670+2276del	ENSP00000312236.5:n.670+2273_670+2276del
ENST00000354071.7:c.1958_1961del	ENSP00000326002.7:p.Lys653SerfsTer?
ENST00000357654.7:c.1958_1961del	ENSP00000350283.3:p.Lys653SerfsTer?
ENST00000412061.3:c.1309_1312del
ENST00000461221.5:c.*1741_*1744del	ENSP00000418548.1:n.*1741_*1744del
ENST00000468300.5:c.787+1171_787+1174del	ENSP00000417148.1:n.787+1171_787+1174del
ENST00000471181.6:c.1958_1961del	ENSP00000418960.2:p.Lys653SerfsTer?
ENST00000478531.5:c.784+1171_784+1174del	ENSP00000420412.1:n.784+1171_784+1174del
ENST00000484087.5:c.409+1171_409+1174del	ENSP00000419481.1:n.409+1171_409+1174del
ENST00000487825.5:c.412+1171_412+1174del	ENSP00000418212.1:n.412+1171_412+1174del
ENST00000491747.6:c.787+1171_787+1174del	ENSP00000420705.2:n.787+1171_787+1174del
ENST00000493795.5:c.1817_1820del	ENSP00000418775.1:p.Lys606SerfsTer?
ENST00000493919.5:c.646+1171_646+1174del	ENSP00000418819.1:n.646+1171_646+1174del
ENST00000586385.5:c.5-29622_5-29619del	ENSP00000465818.1:n.5-29622_5-29619del
ENST00000591534.5:c.-43-19052_-43-19049del	ENSP00000467329.1:n.-43-19052_-43-19049de...
ENST00000591849.5:c.-99+31698_-99+31701del	ENSP00000465347.1:n.-99+31698_-99+31701de...
ENST00000634433.1:c.1835_1838del	ENSP00000489431.1:p.Lys612SerfsTer?
NM_007294.3:c.1958_1961del , LRG_292t1:c.1958_1961del	NP_009225.1:p.Lys653SerfsTer?
NM_007297.3:c.1817_1820del	NP_009228.2:p.Lys606SerfsTer?
NM_007298.3:c.787+1171_787+1174del	NP_009229.2:n.787+1171_787+1174del
NM_007299.3:c.787+1171_787+1174del	NP_009230.2:n.787+1171_787+1174del
NM_007300.3:c.1958_1961del	NP_009231.2:p.Lys653SerfsTer?
NR_027676.1:n.2094_2097del
NM_007294.4:c.1958_1961del MANE Select	NP_009225.1:p.Lys653SerfsTer?
NM_007297.4:c.1817_1820del	NP_009228.2:p.Lys606SerfsTer?
NM_007299.4:c.787+1171_787+1174del	NP_009230.2:n.787+1171_787+1174del
NM_007300.4:c.1958_1961del	NP_009231.2:p.Lys653SerfsTer?
NR_027676.2:n.2135_2138del