Canonical Allele Identifier: CA001485

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 54504
• ClinVar RCV Id: RCV000047764 ; RCV000235592 ; RCV000238948 ; RCV000565618 ; RCV001234367
• dbSNP Id: rs80357802
• MyVariant Identifiers: chr17:g.41245331_41245332del (hg19) ; chr17:g.43093314_43093315del (hg38)
• PubMed: PMID:12100744 ; PMID:26187060 ; PMID:27165220

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093315_43093316del , CM000679.2:g.43093315_43093316del	GRCh38
NC_000017.10:g.41245332_41245333del , CM000679.1:g.41245332_41245333del	GRCh37
NC_000017.9:g.38498858_38498859del	NCBI36
NG_005905.2:g.124669_124670del , LRG_292:g.124669_124670del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.2280_2281del
ENST00000461574.2:c.2216_2217del	ENSP00000417241.2:p.Lys739SerfsTer3
ENST00000470026.6:c.2216_2217del	ENSP00000419274.2:p.Lys739SerfsTer3
ENST00000473961.6:c.2090_2091del	ENSP00000420201.2:p.Lys697SerfsTer3
ENST00000476777.6:c.2213_2214del	ENSP00000417554.2:p.Lys738SerfsTer3
ENST00000477152.6:c.2138_2139del	ENSP00000419988.2:p.Lys713SerfsTer3
ENST00000478531.6:c.784+1429_784+1430del	ENSP00000420412.2:n.784+1429_784+1430del
ENST00000489037.2:c.2138_2139del	ENSP00000420781.2:p.Lys713SerfsTer3
ENST00000493919.6:c.646+1429_646+1430del	ENSP00000418819.2:n.646+1429_646+1430del
ENST00000494123.6:c.2216_2217del	ENSP00000419103.2:p.Lys739SerfsTer3
ENST00000497488.2:c.1328_1329del	ENSP00000418986.2:p.Lys443SerfsTer3
ENST00000618469.2:c.2216_2217del	ENSP00000478114.2:p.Lys739SerfsTer3
ENST00000634433.2:c.2093_2094del	ENSP00000489431.2:p.Lys698SerfsTer3
ENST00000644379.2:c.2216_2217del	ENSP00000496570.2:p.Lys739SerfsTer3
ENST00000644555.2:c.646+1429_646+1430del	ENSP00000494614.2:n.646+1429_646+1430del
ENST00000652672.2:c.2075_2076del	ENSP00000498906.2:p.Lys692SerfsTer3
ENST00000484087.6:c.664+1429_664+1430del	ENSP00000419481.2:n.664+1429_664+1430del
ENST00000700182.1:c.706+1429_706+1430del	ENSP00000514849.1:n.706+1429_706+1430del
ENST00000357654.9:c.2216_2217del MANE Select	ENSP00000350283.3:p.Lys739SerfsTer3
ENST00000471181.7:c.2216_2217del	ENSP00000418960.2:p.Lys739SerfsTer3
ENST00000352993.7:c.671-2283_671-2282del	ENSP00000312236.5:n.671-2283_671-2282del
ENST00000354071.7:c.2216_2217del	ENSP00000326002.7:p.Lys739SerfsTer3
ENST00000357654.7:c.2216_2217del	ENSP00000350283.3:p.Lys739SerfsTer3
ENST00000461221.5:c.*1999_*2000del	ENSP00000418548.1:n.*1999_*2000del
ENST00000468300.5:c.787+1429_787+1430del	ENSP00000417148.1:n.787+1429_787+1430del
ENST00000471181.6:c.2216_2217del	ENSP00000418960.2:p.Lys739SerfsTer3
ENST00000478531.5:c.784+1429_784+1430del	ENSP00000420412.1:n.784+1429_784+1430del
ENST00000484087.5:c.409+1429_409+1430del	ENSP00000419481.1:n.409+1429_409+1430del
ENST00000487825.5:c.412+1429_412+1430del	ENSP00000418212.1:n.412+1429_412+1430del
ENST00000491747.6:c.787+1429_787+1430del	ENSP00000420705.2:n.787+1429_787+1430del
ENST00000493795.5:c.2075_2076del	ENSP00000418775.1:p.Lys692SerfsTer3
ENST00000493919.5:c.646+1429_646+1430del	ENSP00000418819.1:n.646+1429_646+1430del
ENST00000586385.5:c.5-29364_5-29363del	ENSP00000465818.1:n.5-29364_5-29363del
ENST00000591534.5:c.-43-18794_-43-18793del	ENSP00000467329.1:n.-43-18794_-43-18793del
ENST00000591849.5:c.-99+31956_-99+31957del	ENSP00000465347.1:n.-99+31956_-99+31957del
ENST00000634433.1:c.2093_2094del	ENSP00000489431.1:p.Lys698SerfsTer3
NM_007294.3:c.2216_2217del , LRG_292t1:c.2216_2217del	NP_009225.1:p.Lys739SerfsTer3
NM_007297.3:c.2075_2076del	NP_009228.2:p.Lys692SerfsTer3
NM_007298.3:c.787+1429_787+1430del	NP_009229.2:n.787+1429_787+1430del
NM_007299.3:c.787+1429_787+1430del	NP_009230.2:n.787+1429_787+1430del
NM_007300.3:c.2216_2217del	NP_009231.2:p.Lys739SerfsTer3
NR_027676.1:n.2352_2353del
NM_007294.4:c.2216_2217del MANE Select	NP_009225.1:p.Lys739SerfsTer3
NM_007297.4:c.2075_2076del	NP_009228.2:p.Lys692SerfsTer3
NM_007299.4:c.787+1429_787+1430del	NP_009230.2:n.787+1429_787+1430del
NM_007300.4:c.2216_2217del	NP_009231.2:p.Lys739SerfsTer3
NR_027676.2:n.2393_2394del