Canonical Allele Identifier: CA658761209

Gene: BRCA1

Linked Data

• PubMed: PMID:22762150

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074388_43074389delinsAA , CM000679.2:g.43074388_43074389delinsAA	GRCh38
NC_000017.10:g.41226405_41226406delinsAA , CM000679.1:g.41226405_41226406delinsAA	GRCh37
NC_000017.9:g.38479931_38479932delinsAA	NCBI36
NG_005905.2:g.143595_143596delinsTT , LRG_292:g.143595_143596delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4614_4615delinsTT	ENSP00000417241.2:p.Leu1539Ter
ENST00000470026.6:c.4617_4618delinsTT	ENSP00000419274.2:p.Leu1540Ter
ENST00000473961.6:c.4491_4492delinsTT	ENSP00000420201.2:p.Leu1498Ter
ENST00000476777.6:c.4611_4612delinsTT	ENSP00000417554.2:p.Leu1538Ter
ENST00000477152.6:c.4539_4540delinsTT	ENSP00000419988.2:p.Leu1514Ter
ENST00000478531.6:c.1305_1306delinsTT	ENSP00000420412.2:p.Leu436Ter
ENST00000489037.2:c.4539_4540delinsTT	ENSP00000420781.2:p.Leu1514Ter
ENST00000493919.6:c.1167_1168delinsTT	ENSP00000418819.2:p.Leu390Ter
ENST00000494123.6:c.4617_4618delinsTT	ENSP00000419103.2:p.Leu1540Ter
ENST00000497488.2:c.3729_3730delinsTT	ENSP00000418986.2:p.Leu1244Ter
ENST00000618469.2:c.4617_4618delinsTT	ENSP00000478114.2:p.Leu1540Ter
ENST00000634433.2:c.4494_4495delinsTT	ENSP00000489431.2:p.Leu1499Ter
ENST00000644379.2:c.4683_4684delinsTT	ENSP00000496570.2:p.Leu1562Ter
ENST00000644555.2:c.1167_1168delinsTT	ENSP00000494614.2:p.Leu390Ter
ENST00000652672.2:c.4476_4477delinsTT	ENSP00000498906.2:p.Leu1493Ter
ENST00000484087.6:c.1179_1180delinsTT	ENSP00000419481.2:p.Leu394Ter
ENST00000700182.1:c.1224_1225delinsTT	ENSP00000514849.1:p.Leu409Ter
ENST00000357654.9:c.4617_4618delinsTT MANE Select	ENSP00000350283.3:p.Leu1540Ter
ENST00000471181.7:c.4680_4681delinsTT	ENSP00000418960.2:p.Leu1561Ter
ENST00000644379.1:c.1004_1005delinsTT
ENST00000352993.7:c.1191_1192delinsTT	ENSP00000312236.5:p.Leu398Ter
ENST00000357654.7:c.4617_4618delinsTT	ENSP00000350283.3:p.Leu1540Ter
ENST00000461221.5:c.*4400_*4401delinsTT	ENSP00000418548.1:n.*4400_*4401delinsTT
ENST00000468300.5:c.1305_1306delinsTT	ENSP00000417148.1:p.Leu436Ter
ENST00000471181.6:c.4680_4681delinsTT	ENSP00000418960.2:p.Leu1561Ter
ENST00000478531.5:c.1305_1306delinsTT	ENSP00000420412.1:p.Leu436Ter
ENST00000484087.5:c.930_931delinsTT	ENSP00000419481.1:p.Leu311Ter
ENST00000491747.6:c.1305_1306delinsTT	ENSP00000420705.2:p.Leu436Ter
ENST00000493795.5:c.4476_4477delinsTT	ENSP00000418775.1:p.Leu1493Ter
ENST00000493919.5:c.1167_1168delinsTT	ENSP00000418819.1:p.Leu390Ter
ENST00000586385.5:c.5-10438_5-10437delinsTT	ENSP00000465818.1:n.5-10438_5-10437delinsTT
ENST00000591534.5:c.90_91delinsTT	ENSP00000467329.1:p.Leu31Ter
ENST00000591849.5:c.-98-24199_-98-24198delinsTT	ENSP00000465347.1:n.-98-24199_-98-24198delinsTT
NM_007294.3:c.4617_4618delinsTT , LRG_292t1:c.4617_4618delinsTT	NP_009225.1:p.Leu1540Ter
NM_007297.3:c.4476_4477delinsTT	NP_009228.2:p.Leu1493Ter
NM_007298.3:c.1305_1306delinsTT	NP_009229.2:p.Leu436Ter
NM_007299.3:c.1305_1306delinsTT	NP_009230.2:p.Leu436Ter
NM_007300.3:c.4680_4681delinsTT	NP_009231.2:p.Leu1561Ter
NR_027676.1:n.4753_4754delinsTT
NM_007294.4:c.4617_4618delinsTT MANE Select	NP_009225.1:p.Leu1540Ter
NM_007297.4:c.4476_4477delinsTT	NP_009228.2:p.Leu1493Ter
NM_007299.4:c.1305_1306delinsTT	NP_009230.2:p.Leu436Ter
NM_007300.4:c.4680_4681delinsTT	NP_009231.2:p.Leu1561Ter
NR_027676.2:n.4794_4795delinsTT