Canonical Allele Identifier: CA002815
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 37588
dbSNP Id: rs273900730

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43076579_43076581delinsAA , CM000679.2:g.43076579_43076581delinsAA GRCh38
NC_000017.10:g.41228596_41228598delinsAA , CM000679.1:g.41228596_41228598delinsAA GRCh37
NC_000017.9:g.38482122_38482124delinsAA NCBI36
NG_005905.2:g.141403_141405delinsTT , LRG_292:g.141403_141405delinsTT

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.4388_4390delinsTT ENSP00000417241.2:p.Pro1463LeufsTer2
ENST00000470026.6:c.4391_4393delinsTT ENSP00000419274.2:p.Pro1464LeufsTer2
ENST00000473961.6:c.4265_4267delinsTT ENSP00000420201.2:p.Pro1422LeufsTer2
ENST00000476777.6:c.4385_4387delinsTT ENSP00000417554.2:p.Pro1462LeufsTer2
ENST00000477152.6:c.4313_4315delinsTT ENSP00000419988.2:p.Pro1438LeufsTer2
ENST00000478531.6:c.1079_1081delinsTT ENSP00000420412.2:p.Pro360LeufsTer2
ENST00000489037.2:c.4313_4315delinsTT ENSP00000420781.2:p.Pro1438LeufsTer2
ENST00000493919.6:c.941_943delinsTT ENSP00000418819.2:p.Pro314LeufsTer2
ENST00000494123.6:c.4391_4393delinsTT ENSP00000419103.2:p.Pro1464LeufsTer2
ENST00000497488.2:c.3503_3505delinsTT ENSP00000418986.2:p.Pro1168LeufsTer2
ENST00000618469.2:c.4391_4393delinsTT ENSP00000478114.2:p.Pro1464LeufsTer2
ENST00000634433.2:c.4268_4270delinsTT ENSP00000489431.2:p.Pro1423LeufsTer2
ENST00000644379.2:c.4457_4459delinsTT ENSP00000496570.2:p.Pro1486LeufsTer2
ENST00000644555.2:c.941_943delinsTT ENSP00000494614.2:p.Pro314LeufsTer2
ENST00000652672.2:c.4250_4252delinsTT ENSP00000498906.2:p.Pro1417LeufsTer2
ENST00000484087.6:c.953_955delinsTT ENSP00000419481.2:p.Pro318LeufsTer2
ENST00000700182.1:c.998_1000delinsTT ENSP00000514849.1:p.Pro333LeufsTer2
ENST00000357654.9:c.4391_4393delinsTT MANE Select ENSP00000350283.3:p.Pro1464LeufsTer2
ENST00000471181.7:c.4454_4456delinsTT ENSP00000418960.2:p.Pro1485LeufsTer2
ENST00000644379.1:c.778_780delinsTT
ENST00000352993.7:c.965_967delinsTT ENSP00000312236.5:p.Pro322LeufsTer2
ENST00000357654.7:c.4391_4393delinsTT ENSP00000350283.3:p.Pro1464LeufsTer2
ENST00000461221.5:c.*4174_*4176delinsTT ENSP00000418548.1:n.*4174_*4176delinsTT
ENST00000461574.1:c.682_684delinsTT
ENST00000468300.5:c.1079_1081delinsTT ENSP00000417148.1:p.Pro360LeufsTer2
ENST00000471181.6:c.4454_4456delinsTT ENSP00000418960.2:p.Pro1485LeufsTer2
ENST00000478531.5:c.1079_1081delinsTT ENSP00000420412.1:p.Pro360LeufsTer2
ENST00000484087.5:c.704_706delinsTT ENSP00000419481.1:p.Pro235LeufsTer2
ENST00000487825.5:c.707_709delinsTT ENSP00000418212.1:p.Pro236LeufsTer2
ENST00000491747.6:c.1079_1081delinsTT ENSP00000420705.2:p.Pro360LeufsTer2
ENST00000493795.5:c.4250_4252delinsTT ENSP00000418775.1:p.Pro1417LeufsTer2
ENST00000493919.5:c.941_943delinsTT ENSP00000418819.1:p.Pro314LeufsTer2
ENST00000586385.5:c.5-12630_5-12628delinsTT ENSP00000465818.1:n.5-12630_5-12628delins...
ENST00000591534.5:c.-43-2060_-43-2058delinsTT ENSP00000467329.1:n.-43-2060_-43-2058deli...
ENST00000591849.5:c.-98-26391_-98-26389delinsTT ENSP00000465347.1:n.-98-26391_-98-26389de...
ENST00000621897.1:n.282_284delinsTT
NM_007294.3:c.4391_4393delinsTT , LRG_292t1:c.4391_4393delinsTT NP_009225.1:p.Pro1464LeufsTer2
NM_007297.3:c.4250_4252delinsTT NP_009228.2:p.Pro1417LeufsTer2
NM_007298.3:c.1079_1081delinsTT NP_009229.2:p.Pro360LeufsTer2
NM_007299.3:c.1079_1081delinsTT NP_009230.2:p.Pro360LeufsTer2
NM_007300.3:c.4454_4456delinsTT NP_009231.2:p.Pro1485LeufsTer2
NR_027676.1:n.4527_4529delinsTT
NM_007294.4:c.4391_4393delinsTT MANE Select NP_009225.1:p.Pro1464LeufsTer2
NM_007297.4:c.4250_4252delinsTT NP_009228.2:p.Pro1417LeufsTer2
NM_007299.4:c.1079_1081delinsTT NP_009230.2:p.Pro360LeufsTer2
NM_007300.4:c.4454_4456delinsTT NP_009231.2:p.Pro1485LeufsTer2
NR_027676.2:n.4568_4570delinsTT