Canonical Allele Identifier: CA003783
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17662
ClinVar RCV Id: RCV000019230 RCV000019231 RCV000056295 RCV000034761 RCV000131394 RCV000213650 RCV000735481 RCV000785197 RCV001353942 RCV001836711 RCV002496414 RCV003128128 RCV003225925 RCV004554604
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
ERepo: CA003783/MONDO:0700268/092
JSON-LD

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+1243del
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+1243del
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
Search 100 bp 5'
Search 100 bp 3'