Canonical Allele Identifier: CA16615701
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 409363
ClinVar RCV Id: RCV000469427 RCV000661227
dbSNP Id: rs1060502362
MyVariant Identifiers: chr17:g.41251872_41251879del (hg19) chr17:g.43099855_43099862del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43099856_43099863del , CM000679.2:g.43099856_43099863del GRCh38
NC_000017.10:g.41251873_41251880del , CM000679.1:g.41251873_41251880del GRCh37
NC_000017.9:g.38505399_38505406del NCBI36
NG_005905.2:g.118122_118129del , LRG_292:g.118122_118129del

Transcript Alleles

HGVS Amino-acid change
ENST00000354071.8:n.524_531del
ENST00000461574.2:c.460_467del ENSP00000417241.2:p.Val154LeufsTer2
ENST00000470026.6:c.460_467del ENSP00000419274.2:p.Val154LeufsTer2
ENST00000473961.6:c.457_464del ENSP00000420201.2:p.Val153LeufsTer2
ENST00000476777.6:c.457_464del ENSP00000417554.2:p.Val153LeufsTer2
ENST00000477152.6:c.382_389del ENSP00000419988.2:p.Val128LeufsTer2
ENST00000478531.6:c.457_464del ENSP00000420412.2:p.Val153LeufsTer2
ENST00000489037.2:c.382_389del ENSP00000420781.2:p.Val128LeufsTer2
ENST00000493919.6:c.319_326del ENSP00000418819.2:p.Val107LeufsTer2
ENST00000494123.6:c.460_467del ENSP00000419103.2:p.Val154LeufsTer2
ENST00000497488.2:c.-218-5002_-218-4995del ENSP00000418986.2:n.-218-5002_-218-4995de...
ENST00000618469.2:c.460_467del ENSP00000478114.2:p.Val154LeufsTer2
ENST00000634433.2:c.460_467del ENSP00000489431.2:p.Val154LeufsTer2
ENST00000644379.2:c.460_467del ENSP00000496570.2:p.Val154LeufsTer2
ENST00000644555.2:c.319_326del ENSP00000494614.2:p.Val107LeufsTer2
ENST00000652672.2:c.319_326del ENSP00000498906.2:p.Val107LeufsTer2
ENST00000484087.6:c.460_467del ENSP00000419481.2:p.Val154LeufsTer2
ENST00000700182.1:c.379_386del ENSP00000514849.1:p.Val127LeufsTer2
ENST00000700183.1:c.*374_*381del ENSP00000514850.1:n.*374_*381del
ENST00000700184.1:n.700_707del
ENST00000357654.9:c.460_467del MANE Select ENSP00000350283.3:p.Val154LeufsTer2
ENST00000471181.7:c.460_467del ENSP00000418960.2:p.Val154LeufsTer2
ENST00000642945.1:c.*334_*341del ENSP00000495897.1:n.*334_*341del
ENST00000652672.1:c.319_326del ENSP00000498906.1:p.Val107LeufsTer2
ENST00000352993.7:c.460_467del ENSP00000312236.5:p.Val154LeufsTer2
ENST00000354071.7:c.460_467del ENSP00000326002.7:p.Val154LeufsTer2
ENST00000357654.7:c.460_467del ENSP00000350283.3:p.Val154LeufsTer2
ENST00000461221.5:c.*243_*250del ENSP00000418548.1:n.*243_*250del
ENST00000461798.5:c.*246_*253del ENSP00000417988.1:n.*246_*253del
ENST00000468300.5:c.460_467del ENSP00000417148.1:p.Val154LeufsTer2
ENST00000470026.5:c.460_467del ENSP00000419274.1:p.Val154LeufsTer2
ENST00000471181.6:c.460_467del ENSP00000418960.2:p.Val154LeufsTer2
ENST00000473961.5:c.180_187del
ENST00000476777.5:c.457_464del ENSP00000417554.1:p.Val153LeufsTer2
ENST00000477152.5:c.382_389del ENSP00000419988.1:p.Val128LeufsTer2
ENST00000478531.5:c.457_464del ENSP00000420412.1:p.Val153LeufsTer2
ENST00000484087.5:c.205_212del ENSP00000419481.1:p.Val69LeufsTer2
ENST00000487825.5:c.208_215del ENSP00000418212.1:p.Val70LeufsTer2
ENST00000491747.6:c.460_467del ENSP00000420705.2:p.Val154LeufsTer2
ENST00000492859.5:c.*396_*403del ENSP00000420253.1:n.*396_*403del
ENST00000493795.5:c.319_326del ENSP00000418775.1:p.Val107LeufsTer2
ENST00000493919.5:c.319_326del ENSP00000418819.1:p.Val107LeufsTer2
ENST00000494123.5:c.460_467del ENSP00000419103.1:p.Val154LeufsTer2
ENST00000497488.1:c.-218-5002_-218-4995del ENSP00000418986.1:n.-218-5002_-218-4995de...
ENST00000586385.5:c.4+25320_4+25327del ENSP00000465818.1:n.4+25320_4+25327del
ENST00000591534.5:c.-43-25341_-43-25334del ENSP00000467329.1:n.-43-25341_-43-25334de...
ENST00000591849.5:c.-99+25409_-99+25416del ENSP00000465347.1:n.-99+25409_-99+25416de...
ENST00000634433.1:c.460_467del ENSP00000489431.1:p.Val154LeufsTer2
NM_007294.3:c.460_467del , LRG_292t1:c.460_467del NP_009225.1:p.Val154LeufsTer2
NM_007297.3:c.319_326del NP_009228.2:p.Val107LeufsTer2
NM_007298.3:c.460_467del NP_009229.2:p.Val154LeufsTer2
NM_007299.3:c.460_467del NP_009230.2:p.Val154LeufsTer2
NM_007300.3:c.460_467del NP_009231.2:p.Val154LeufsTer2
NR_027676.1:n.596_603del
NM_007294.4:c.460_467del MANE Select NP_009225.1:p.Val154LeufsTer2
NM_007297.4:c.319_326del NP_009228.2:p.Val107LeufsTer2
NM_007299.4:c.460_467del NP_009230.2:p.Val154LeufsTer2
NM_007300.4:c.460_467del NP_009231.2:p.Val154LeufsTer2
NR_027676.2:n.637_644del
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