Canonical Allele Identifier: CA003783

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 17662
• ClinVar RCV Id: RCV001353942 ; RCV001836711 ; RCV002496414 ; RCV003128128 ; RCV003225925 ; RCV003389669
• dbSNP Id: rs80357914
• ExAC: 17:41276044 ACT / A
• gnomAD v2: 17-41276044-ACT-A
• gnomAD v3: 17-43124027-ACT-A
• gnomAD v4: 17-43124027-ACT-A
• COSMIC: COSM35893 ; COSM3190162 ; COSM3190163
• MyVariant Identifiers: chr17:g.41276047_41276048del (hg19) ; chr17:g.41276045_41276046del (hg19) ; chr17:g.41276045_41276046delCT (hg19) ; chr17:g.43124030_43124031del (hg38) ; chr17:g.43124028_43124029del (hg38)
• PubMed: PMID:7550349 ; PMID:7611277 ; PMID:7837387 ; PMID:7894492 ; PMID:8531968 ; PMID:8533757 ; PMID:8642955 ; PMID:8651293 ; PMID:8764110 ; PMID:9042909 ; PMID:9145676 ; PMID:9921907 ; PMID:10090881 ; PMID:10739756 ; PMID:11179017 ; PMID:11352856 ; PMID:11896106 ; PMID:12473589 ; PMID:12566964 ; PMID:15024741 ; PMID:15383404 ; PMID:15994883 ; PMID:16168118 ; PMID:16941470 ; PMID:17307836 ; PMID:17688236 ; PMID:18034184 ; PMID:18594935 ; PMID:19147582 ; PMID:19329713 ; PMID:19906413 ; PMID:20104584 ; PMID:20301425 ; PMID:20651350 ; PMID:20711688 ; PMID:20924075 ; PMID:21203900 ; PMID:21324516 ; PMID:21503673 ; PMID:21643751 ; PMID:22006311 ; PMID:22009639 ; PMID:22274685 ; PMID:22430266 ; PMID:22516946 ; PMID:22535016 ; PMID:22703879 ; PMID:22763381 ; PMID:23086583 ; PMID:23199084 ; PMID:23233716 ; PMID:23531862 ; PMID:23633455 ; PMID:23658460 ; PMID:23683081 ; PMID:23788959 ; PMID:23855721 ; PMID:23867111 ; PMID:23891399 ; PMID:23941904 ; PMID:24737347 ; PMID:24764757 ; PMID:26295337 ; PMID:26440929 ; PMID:26845104 ; PMID:27553291

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43124030_43124031del , CM000679.2:g.43124030_43124031del	GRCh38
NC_000017.10:g.41276047_41276048del , CM000679.1:g.41276047_41276048del	GRCh37
NC_000017.9:g.38529573_38529574del	NCBI36
NG_005905.2:g.93955_93956del , LRG_292:g.93955_93956del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.132_133del
ENST00000461574.2:c.68_69del	ENSP00000417241.2:p.Glu23ValfsTer17
ENST00000470026.6:c.68_69del	ENSP00000419274.2:p.Glu23ValfsTer17
ENST00000473961.6:c.68_69del	ENSP00000420201.2:p.Glu23ValfsTer17
ENST00000476777.6:c.68_69del	ENSP00000417554.2:p.Glu23ValfsTer17
ENST00000477152.6:c.68_69del	ENSP00000419988.2:p.Glu23ValfsTer17
ENST00000478531.6:c.68_69del	ENSP00000420412.2:p.Glu23ValfsTer17
ENST00000489037.2:c.68_69del	ENSP00000420781.2:p.Glu23ValfsTer17
ENST00000493919.6:c.-20_-19del	ENSP00000418819.2:n.-20_-19del
ENST00000494123.6:c.68_69del	ENSP00000419103.2:p.Glu23ValfsTer17
ENST00000497488.2:c.-219+1242_-219+1243del	ENSP00000418986.2:n.-219+1242_-219+1243de...
ENST00000618469.2:c.68_69del	ENSP00000478114.2:p.Glu23ValfsTer17
ENST00000634433.2:c.68_69del	ENSP00000489431.2:p.Glu23ValfsTer17
ENST00000644379.2:c.68_69del	ENSP00000496570.2:p.Glu23ValfsTer17
ENST00000644555.2:c.-219_-218del	ENSP00000494614.2:n.-219_-218del
ENST00000652672.2:c.-193_-192del	ENSP00000498906.2:n.-193_-192del
ENST00000484087.6:c.68_69del	ENSP00000419481.2:p.Glu23ValfsTer17
ENST00000700182.1:c.68_69del	ENSP00000514849.1:p.Glu23ValfsTer17
ENST00000700183.1:c.68_69del	ENSP00000514850.1:p.Glu23ValfsTer17
ENST00000700184.1:n.311_312del
ENST00000700185.1:n.187_188del
ENST00000700186.1:n.187_188del
ENST00000357654.9:c.68_69del MANE Select	ENSP00000350283.3:p.Glu23ValfsTer17
ENST00000471181.7:c.68_69del	ENSP00000418960.2:p.Glu23ValfsTer17
ENST00000642945.1:c.68_69del	ENSP00000495897.1:p.Glu23ValfsTer17
ENST00000644555.1:c.-219_-218del	ENSP00000494614.1:n.-219_-218del
ENST00000652672.1:c.-193_-192del	ENSP00000498906.1:n.-193_-192del
ENST00000352993.7:c.68_69del	ENSP00000312236.5:p.Glu23ValfsTer17
ENST00000354071.7:c.68_69del	ENSP00000326002.7:p.Glu23ValfsTer17
ENST00000357654.7:c.68_69del	ENSP00000350283.3:p.Glu23ValfsTer17
ENST00000461221.5:c.68_69del	ENSP00000418548.1:p.Glu23ValfsTer17
ENST00000461798.5:c.68_69del	ENSP00000417988.1:p.Glu23ValfsTer17
ENST00000468300.5:c.68_69del	ENSP00000417148.1:p.Glu23ValfsTer17
ENST00000470026.5:c.68_69del	ENSP00000419274.1:p.Glu23ValfsTer17
ENST00000471181.6:c.68_69del	ENSP00000418960.2:p.Glu23ValfsTer17
ENST00000476777.5:c.68_69del	ENSP00000417554.1:p.Glu23ValfsTer17
ENST00000477152.5:c.68_69del	ENSP00000419988.1:p.Glu23ValfsTer17
ENST00000478531.5:c.68_69del	ENSP00000420412.1:p.Glu23ValfsTer17
ENST00000489037.1:c.68_69del	ENSP00000420781.1:p.Glu23ValfsTer17
ENST00000491747.6:c.68_69del	ENSP00000420705.2:p.Glu23ValfsTer17
ENST00000492859.5:c.68_69del	ENSP00000420253.1:p.Glu23ValfsTer17
ENST00000493795.5:c.-20_-19del	ENSP00000418775.1:n.-20_-19del
ENST00000493919.5:c.-20_-19del	ENSP00000418819.1:n.-20_-19del
ENST00000494123.5:c.68_69del	ENSP00000419103.1:p.Glu23ValfsTer17
ENST00000497488.1:c.-219+1242_-219+1243del	ENSP00000418986.1:n.-219+1242_-219+1243de...
ENST00000586385.5:c.4+1153_4+1154del	ENSP00000465818.1:n.4+1153_4+1154del
ENST00000591534.5:c.-44+1242_-44+1243del	ENSP00000467329.1:n.-44+1242_-44+1243del
ENST00000591849.5:c.-99+1242_-99+1243del	ENSP00000465347.1:n.-99+1242_-99+1243del
ENST00000618469.1:c.68_69del	ENSP00000478114.1:p.Glu23ValfsTer?
ENST00000634433.1:c.68_69del	ENSP00000489431.1:p.Glu23ValfsTer17
NM_007294.3:c.68_69del , LRG_292t1:c.68_69del	NP_009225.1:p.Glu23ValfsTer17
NM_007297.3:c.-20_-19del	NP_009228.2:n.-20_-19del
NM_007298.3:c.68_69del	NP_009229.2:p.Glu23ValfsTer17
NM_007299.3:c.68_69del	NP_009230.2:p.Glu23ValfsTer17
NM_007300.3:c.68_69del	NP_009231.2:p.Glu23ValfsTer17
NR_027676.1:n.229_230del
NM_007294.4:c.68_69del MANE Select	NP_009225.1:p.Glu23ValfsTer17
NM_007297.4:c.-20_-19del	NP_009228.2:n.-20_-19del
NM_007299.4:c.68_69del	NP_009230.2:p.Glu23ValfsTer17
NM_007300.4:c.68_69del	NP_009231.2:p.Glu23ValfsTer17
NR_027676.2:n.270_271del