Canonical Allele Identifier: CA003879

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55707
• ClinVar RCV Id: RCV000112788 ; RCV000496864 ; RCV000657216 ; RCV002415506
• dbSNP Id: rs80357955
• MyVariant Identifiers: chr17:g.41246753_41246754del (hg19) ; chr17:g.43094736_43094737del (hg38)
• PubMed: PMID:10595257 ; PMID:26295337

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094737_43094738del , CM000679.2:g.43094737_43094738del	GRCh38
NC_000017.10:g.41246754_41246755del , CM000679.1:g.41246754_41246755del	GRCh37
NC_000017.9:g.38500280_38500281del	NCBI36
NG_005905.2:g.123247_123248del , LRG_292:g.123247_123248del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.858_859del
ENST00000461574.2:c.794_795del	ENSP00000417241.2:p.Ser265CysfsTer21
ENST00000470026.6:c.794_795del	ENSP00000419274.2:p.Ser265CysfsTer21
ENST00000473961.6:c.668_669del	ENSP00000420201.2:p.Ser223CysfsTer21
ENST00000476777.6:c.791_792del	ENSP00000417554.2:p.Ser264CysfsTer21
ENST00000477152.6:c.716_717del	ENSP00000419988.2:p.Ser239CysfsTer21
ENST00000478531.6:c.784+7_784+8del	ENSP00000420412.2:n.784+7_784+8del
ENST00000489037.2:c.716_717del	ENSP00000420781.2:p.Ser239CysfsTer21
ENST00000493919.6:c.646+7_646+8del	ENSP00000418819.2:n.646+7_646+8del
ENST00000494123.6:c.794_795del	ENSP00000419103.2:p.Ser265CysfsTer21
ENST00000497488.2:c.-95_-94del	ENSP00000418986.2:n.-95_-94del
ENST00000618469.2:c.794_795del	ENSP00000478114.2:p.Ser265CysfsTer21
ENST00000634433.2:c.671_672del	ENSP00000489431.2:p.Ser224CysfsTer21
ENST00000644379.2:c.794_795del	ENSP00000496570.2:p.Ser265CysfsTer21
ENST00000644555.2:c.646+7_646+8del	ENSP00000494614.2:n.646+7_646+8del
ENST00000652672.2:c.653_654del	ENSP00000498906.2:p.Ser218CysfsTer21
ENST00000484087.6:c.664+7_664+8del	ENSP00000419481.2:n.664+7_664+8del
ENST00000700182.1:c.706+7_706+8del	ENSP00000514849.1:n.706+7_706+8del
ENST00000700183.1:c.*802_*803del	ENSP00000514850.1:n.*802_*803del
ENST00000357654.9:c.794_795del MANE Select	ENSP00000350283.3:p.Ser265CysfsTer21
ENST00000471181.7:c.794_795del	ENSP00000418960.2:p.Ser265CysfsTer21
ENST00000642945.1:c.*668_*669del	ENSP00000495897.1:n.*668_*669del
ENST00000652672.1:c.653_654del	ENSP00000498906.1:p.Ser218CysfsTer21
ENST00000352993.7:c.670+1109_670+1110del	ENSP00000312236.5:n.670+1109_670+1110del
ENST00000354071.7:c.794_795del	ENSP00000326002.7:p.Ser265CysfsTer21
ENST00000357654.7:c.794_795del	ENSP00000350283.3:p.Ser265CysfsTer21
ENST00000412061.3:c.145_146del
ENST00000461221.5:c.*577_*578del	ENSP00000418548.1:n.*577_*578del
ENST00000468300.5:c.787+7_787+8del	ENSP00000417148.1:n.787+7_787+8del
ENST00000470026.5:c.794_795del	ENSP00000419274.1:p.Ser265CysfsTer21
ENST00000471181.6:c.794_795del	ENSP00000418960.2:p.Ser265CysfsTer21
ENST00000473961.5:c.391_392del
ENST00000477152.5:c.716_717del	ENSP00000419988.1:p.Ser239CysfsTer21
ENST00000478531.5:c.784+7_784+8del	ENSP00000420412.1:n.784+7_784+8del
ENST00000484087.5:c.409+7_409+8del	ENSP00000419481.1:n.409+7_409+8del
ENST00000487825.5:c.412+7_412+8del	ENSP00000418212.1:n.412+7_412+8del
ENST00000491747.6:c.787+7_787+8del	ENSP00000420705.2:n.787+7_787+8del
ENST00000492859.5:c.*730_*731del	ENSP00000420253.1:n.*730_*731del
ENST00000493795.5:c.653_654del	ENSP00000418775.1:p.Ser218CysfsTer21
ENST00000493919.5:c.646+7_646+8del	ENSP00000418819.1:n.646+7_646+8del
ENST00000494123.5:c.794_795del	ENSP00000419103.1:p.Ser265CysfsTer21
ENST00000497488.1:c.-95_-94del	ENSP00000418986.1:n.-95_-94del
ENST00000586385.5:c.4+30445_4+30446del	ENSP00000465818.1:n.4+30445_4+30446del
ENST00000591534.5:c.-43-20216_-43-20215del	ENSP00000467329.1:n.-43-20216_-43-20215del
ENST00000591849.5:c.-99+30534_-99+30535del	ENSP00000465347.1:n.-99+30534_-99+30535del
ENST00000634433.1:c.671_672del	ENSP00000489431.1:p.Ser224CysfsTer21
NM_007294.3:c.794_795del , LRG_292t1:c.794_795del	NP_009225.1:p.Ser265CysfsTer21
NM_007297.3:c.653_654del	NP_009228.2:p.Ser218CysfsTer21
NM_007298.3:c.787+7_787+8del	NP_009229.2:n.787+7_787+8del
NM_007299.3:c.787+7_787+8del	NP_009230.2:n.787+7_787+8del
NM_007300.3:c.794_795del	NP_009231.2:p.Ser265CysfsTer21
NR_027676.1:n.930_931del
NM_007294.4:c.794_795del MANE Select	NP_009225.1:p.Ser265CysfsTer21
NM_007297.4:c.653_654del	NP_009228.2:p.Ser218CysfsTer21
NM_007299.4:c.787+7_787+8del	NP_009230.2:n.787+7_787+8del
NM_007300.4:c.794_795del	NP_009231.2:p.Ser265CysfsTer21
NR_027676.2:n.971_972del