Canonical Allele Identifier: CA2260775448
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43076497_43076519delinsCCTGGTTCTTTATTTTTACTGGT , CM000679.2:g.43076497_43076519delinsCCTGGTTCTTTATTTTTACTGGT GRCh38
NC_000017.10:g.41228514_41228536delinsCCTGGTTCTTTATTTTTACTGGT , CM000679.1:g.41228514_41228536delinsCCTGGTTCTTTATTTTTACTGGT GRCh37
NC_000017.9:g.38482040_38482062delinsCCTGGTTCTTTATTTTTACTGGT NCBI36
NG_005905.2:g.141465_141487delinsACCAGTAAAAATAAAGAACCAGG , LRG_292:g.141465_141487delinsACCAGTAAAAATAAAGAACCAGG

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.4450_4472delinsACCAGTAAAAATAAAGAACCAGG ENSP00000417241.2:p.Thr1484=
ENST00000470026.6:c.4453_4475delinsACCAGTAAAAATAAAGAACCAGG ENSP00000419274.2:p.Thr1485=
ENST00000473961.6:c.4327_4349delinsACCAGTAAAAATAAAGAACCAGG ENSP00000420201.2:p.Thr1443=
ENST00000476777.6:c.4447_4469delinsACCAGTAAAAATAAAGAACCAGG ENSP00000417554.2:p.Thr1483=
ENST00000477152.6:c.4375_4397delinsACCAGTAAAAATAAAGAACCAGG ENSP00000419988.2:p.Thr1459=
ENST00000478531.6:c.1141_1163delinsACCAGTAAAAATAAAGAACCAGG ENSP00000420412.2:p.Thr381=
ENST00000489037.2:c.4375_4397delinsACCAGTAAAAATAAAGAACCAGG ENSP00000420781.2:p.Thr1459=
ENST00000493919.6:c.1003_1025delinsACCAGTAAAAATAAAGAACCAGG ENSP00000418819.2:p.Thr335=
ENST00000494123.6:c.4453_4475delinsACCAGTAAAAATAAAGAACCAGG ENSP00000419103.2:p.Thr1485=
ENST00000497488.2:c.3565_3587delinsACCAGTAAAAATAAAGAACCAGG ENSP00000418986.2:p.Thr1189=
ENST00000618469.2:c.4453_4475delinsACCAGTAAAAATAAAGAACCAGG ENSP00000478114.2:p.Thr1485=
ENST00000634433.2:c.4330_4352delinsACCAGTAAAAATAAAGAACCAGG ENSP00000489431.2:p.Thr1444=
ENST00000644379.2:c.4519_4541delinsACCAGTAAAAATAAAGAACCAGG ENSP00000496570.2:p.Thr1507=
ENST00000644555.2:c.1003_1025delinsACCAGTAAAAATAAAGAACCAGG ENSP00000494614.2:p.Thr335=
ENST00000652672.2:c.4312_4334delinsACCAGTAAAAATAAAGAACCAGG ENSP00000498906.2:p.Thr1438=
ENST00000484087.6:c.1015_1037delinsACCAGTAAAAATAAAGAACCAGG ENSP00000419481.2:p.Thr339=
ENST00000700182.1:c.1060_1082delinsACCAGTAAAAATAAAGAACCAGG ENSP00000514849.1:p.Thr354=
ENST00000357654.9:c.4453_4475delinsACCAGTAAAAATAAAGAACCAGG MANE Select ENSP00000350283.3:p.Thr1485=
ENST00000471181.7:c.4516_4538delinsACCAGTAAAAATAAAGAACCAGG ENSP00000418960.2:p.Thr1506=
ENST00000644379.1:c.840_862delinsACCAGTAAAAATAAAGAACCAGG
ENST00000352993.7:c.1027_1049delinsACCAGTAAAAATAAAGAACCAGG ENSP00000312236.5:p.Thr343=
ENST00000357654.7:c.4453_4475delinsACCAGTAAAAATAAAGAACCAGG ENSP00000350283.3:p.Thr1485=
ENST00000461221.5:c.*4236_*4258delinsACCAGTAAAAATAAAGAACCAGG ENSP00000418548.1:n.*4236_*4258delinsACCA...
ENST00000468300.5:c.1141_1163delinsACCAGTAAAAATAAAGAACCAGG ENSP00000417148.1:p.Thr381=
ENST00000471181.6:c.4516_4538delinsACCAGTAAAAATAAAGAACCAGG ENSP00000418960.2:p.Thr1506=
ENST00000478531.5:c.1141_1163delinsACCAGTAAAAATAAAGAACCAGG ENSP00000420412.1:p.Thr381=
ENST00000484087.5:c.766_788delinsACCAGTAAAAATAAAGAACCAGG ENSP00000419481.1:p.Thr256=
ENST00000487825.5:c.769_791delinsACCAGTAAAAATAAAGAACCAGG ENSP00000418212.1:p.Thr257=
ENST00000491747.6:c.1141_1163delinsACCAGTAAAAATAAAGAACCAGG ENSP00000420705.2:p.Thr381=
ENST00000493795.5:c.4312_4334delinsACCAGTAAAAATAAAGAACCAGG ENSP00000418775.1:p.Thr1438=
ENST00000493919.5:c.1003_1025delinsACCAGTAAAAATAAAGAACCAGG ENSP00000418819.1:p.Thr335=
ENST00000586385.5:c.5-12568_5-12546delinsACCAGTAAAAATAAAGAACCAGG ENSP00000465818.1:n.5-12568_5-12546delins...
ENST00000591534.5:c.-43-1998_-43-1976delinsACCAGTAAAAATAAAGAACCAGG ENSP00000467329.1:n.-43-1998_-43-1976deli...
ENST00000591849.5:c.-98-26329_-98-26307delinsACCAGTAAAAATAAAGAACCAGG ENSP00000465347.1:n.-98-26329_-98-26307de...
ENST00000621897.1:n.344_366delinsACCAGTAAAAATAAAGAACCAGG
NM_007294.3:c.4453_4475delinsACCAGTAAAAATAAAGAACCAGG , LRG_292t1:c.4453_4475delinsACCAGTAAAAATAAAGAACCAGG NP_009225.1:p.Thr1485=
NM_007297.3:c.4312_4334delinsACCAGTAAAAATAAAGAACCAGG NP_009228.2:p.Thr1438=
NM_007298.3:c.1141_1163delinsACCAGTAAAAATAAAGAACCAGG NP_009229.2:p.Thr381=
NM_007299.3:c.1141_1163delinsACCAGTAAAAATAAAGAACCAGG NP_009230.2:p.Thr381=
NM_007300.3:c.4516_4538delinsACCAGTAAAAATAAAGAACCAGG NP_009231.2:p.Thr1506=
NR_027676.1:n.4589_4611delinsACCAGTAAAAATAAAGAACCAGG
NM_007294.4:c.4453_4475delinsACCAGTAAAAATAAAGAACCAGG MANE Select NP_009225.1:p.Thr1485=
NM_007297.4:c.4312_4334delinsACCAGTAAAAATAAAGAACCAGG NP_009228.2:p.Thr1438=
NM_007299.4:c.1141_1163delinsACCAGTAAAAATAAAGAACCAGG NP_009230.2:p.Thr381=
NM_007300.4:c.4516_4538delinsACCAGTAAAAATAAAGAACCAGG NP_009231.2:p.Thr1506=
NR_027676.2:n.4630_4652delinsACCAGTAAAAATAAAGAACCAGG