Canonical Allele Identifier: CA645373163
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 431264
ClinVar RCV Id: RCV000496481 RCV000661210
dbSNP Id: rs1135401877
MyVariant Identifiers: chr17:g.41226512_41226516del (hg19) chr17:g.43074495_43074499del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43074495_43074499del , CM000679.2:g.43074495_43074499del GRCh38
NC_000017.10:g.41226512_41226516del , CM000679.1:g.41226512_41226516del GRCh37
NC_000017.9:g.38480038_38480042del NCBI36
NG_005905.2:g.143485_143489del , LRG_292:g.143485_143489del

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.4504_4508del ENSP00000417241.2:p.Ser1502ArgfsTer2
ENST00000470026.6:c.4507_4511del ENSP00000419274.2:p.Ser1503ArgfsTer2
ENST00000473961.6:c.4381_4385del ENSP00000420201.2:p.Ser1461ArgfsTer2
ENST00000476777.6:c.4501_4505del ENSP00000417554.2:p.Ser1501ArgfsTer2
ENST00000477152.6:c.4429_4433del ENSP00000419988.2:p.Ser1477ArgfsTer2
ENST00000478531.6:c.1195_1199del ENSP00000420412.2:p.Ser399ArgfsTer2
ENST00000489037.2:c.4429_4433del ENSP00000420781.2:p.Ser1477ArgfsTer2
ENST00000493919.6:c.1057_1061del ENSP00000418819.2:p.Ser353ArgfsTer2
ENST00000494123.6:c.4507_4511del ENSP00000419103.2:p.Ser1503ArgfsTer2
ENST00000497488.2:c.3619_3623del ENSP00000418986.2:p.Ser1207ArgfsTer2
ENST00000618469.2:c.4507_4511del ENSP00000478114.2:p.Ser1503ArgfsTer2
ENST00000634433.2:c.4384_4388del ENSP00000489431.2:p.Ser1462ArgfsTer2
ENST00000644379.2:c.4573_4577del ENSP00000496570.2:p.Ser1525ArgfsTer2
ENST00000644555.2:c.1057_1061del ENSP00000494614.2:p.Ser353ArgfsTer2
ENST00000652672.2:c.4366_4370del ENSP00000498906.2:p.Ser1456ArgfsTer2
ENST00000484087.6:c.1069_1073del ENSP00000419481.2:p.Ser357ArgfsTer2
ENST00000700182.1:c.1114_1118del ENSP00000514849.1:p.Ser372ArgfsTer2
ENST00000357654.9:c.4507_4511del MANE Select ENSP00000350283.3:p.Ser1503ArgfsTer2
ENST00000471181.7:c.4570_4574del ENSP00000418960.2:p.Ser1524ArgfsTer2
ENST00000644379.1:c.894_898del
ENST00000352993.7:c.1081_1085del ENSP00000312236.5:p.Ser361ArgfsTer2
ENST00000357654.7:c.4507_4511del ENSP00000350283.3:p.Ser1503ArgfsTer2
ENST00000461221.5:c.*4290_*4294del ENSP00000418548.1:n.*4290_*4294del
ENST00000468300.5:c.1195_1199del ENSP00000417148.1:p.Ser399ArgfsTer2
ENST00000471181.6:c.4570_4574del ENSP00000418960.2:p.Ser1524ArgfsTer2
ENST00000478531.5:c.1195_1199del ENSP00000420412.1:p.Ser399ArgfsTer2
ENST00000484087.5:c.820_824del ENSP00000419481.1:p.Ser274ArgfsTer2
ENST00000491747.6:c.1195_1199del ENSP00000420705.2:p.Ser399ArgfsTer2
ENST00000493795.5:c.4366_4370del ENSP00000418775.1:p.Ser1456ArgfsTer2
ENST00000493919.5:c.1057_1061del ENSP00000418819.1:p.Ser353ArgfsTer2
ENST00000586385.5:c.5-10548_5-10544del ENSP00000465818.1:n.5-10548_5-10544del
ENST00000591534.5:c.-21_-17del ENSP00000467329.1:n.-21_-17del
ENST00000591849.5:c.-98-24309_-98-24305del ENSP00000465347.1:n.-98-24309_-98-24305de...
NM_007294.3:c.4507_4511del , LRG_292t1:c.4507_4511del NP_009225.1:p.Ser1503ArgfsTer2
NM_007297.3:c.4366_4370del NP_009228.2:p.Ser1456ArgfsTer2
NM_007298.3:c.1195_1199del NP_009229.2:p.Ser399ArgfsTer2
NM_007299.3:c.1195_1199del NP_009230.2:p.Ser399ArgfsTer2
NM_007300.3:c.4570_4574del NP_009231.2:p.Ser1524ArgfsTer2
NR_027676.1:n.4643_4647del
NM_007294.4:c.4507_4511del MANE Select NP_009225.1:p.Ser1503ArgfsTer2
NM_007297.4:c.4366_4370del NP_009228.2:p.Ser1456ArgfsTer2
NM_007299.4:c.1195_1199del NP_009230.2:p.Ser399ArgfsTer2
NM_007300.4:c.4570_4574del NP_009231.2:p.Ser1524ArgfsTer2
NR_027676.2:n.4684_4688del
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