Canonical Allele Identifier: CA2573153990

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1388173
• ClinVar RCV Id: RCV001908309
• dbSNP Id: rs2154062615

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076523_43076526dup , CM000679.2:g.43076523_43076526dup	GRCh38
NC_000017.10:g.41228540_41228543dup , CM000679.1:g.41228540_41228543dup	GRCh37
NC_000017.9:g.38482066_38482069dup	NCBI36
NG_005905.2:g.141459_141462dup , LRG_292:g.141459_141462dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4444_4447dup	ENSP00000417241.2:p.Ser1483Ter
ENST00000470026.6:c.4447_4450dup	ENSP00000419274.2:p.Ser1484Ter
ENST00000473961.6:c.4321_4324dup	ENSP00000420201.2:p.Ser1442Ter
ENST00000476777.6:c.4441_4444dup	ENSP00000417554.2:p.Ser1482Ter
ENST00000477152.6:c.4369_4372dup	ENSP00000419988.2:p.Ser1458Ter
ENST00000478531.6:c.1135_1138dup	ENSP00000420412.2:p.Ser380Ter
ENST00000489037.2:c.4369_4372dup	ENSP00000420781.2:p.Ser1458Ter
ENST00000493919.6:c.997_1000dup	ENSP00000418819.2:p.Ser334Ter
ENST00000494123.6:c.4447_4450dup	ENSP00000419103.2:p.Ser1484Ter
ENST00000497488.2:c.3559_3562dup	ENSP00000418986.2:p.Ser1188Ter
ENST00000618469.2:c.4447_4450dup	ENSP00000478114.2:p.Ser1484Ter
ENST00000634433.2:c.4324_4327dup	ENSP00000489431.2:p.Ser1443Ter
ENST00000644379.2:c.4513_4516dup	ENSP00000496570.2:p.Ser1506Ter
ENST00000644555.2:c.997_1000dup	ENSP00000494614.2:p.Ser334Ter
ENST00000652672.2:c.4306_4309dup	ENSP00000498906.2:p.Ser1437Ter
ENST00000484087.6:c.1009_1012dup	ENSP00000419481.2:p.Ser338Ter
ENST00000700182.1:c.1054_1057dup	ENSP00000514849.1:p.Ser353Ter
ENST00000357654.9:c.4447_4450dup MANE Select	ENSP00000350283.3:p.Ser1484Ter
ENST00000471181.7:c.4510_4513dup	ENSP00000418960.2:p.Ser1505Ter
ENST00000644379.1:c.834_837dup
ENST00000352993.7:c.1021_1024dup	ENSP00000312236.5:p.Ser342Ter
ENST00000357654.7:c.4447_4450dup	ENSP00000350283.3:p.Ser1484Ter
ENST00000461221.5:c.*4230_*4233dup	ENSP00000418548.1:n.*4230_*4233dup
ENST00000468300.5:c.1135_1138dup	ENSP00000417148.1:p.Ser380Ter
ENST00000471181.6:c.4510_4513dup	ENSP00000418960.2:p.Ser1505Ter
ENST00000478531.5:c.1135_1138dup	ENSP00000420412.1:p.Ser380Ter
ENST00000484087.5:c.760_763dup	ENSP00000419481.1:p.Ser255Ter
ENST00000487825.5:c.763_766dup	ENSP00000418212.1:p.Ser256Ter
ENST00000491747.6:c.1135_1138dup	ENSP00000420705.2:p.Ser380Ter
ENST00000493795.5:c.4306_4309dup	ENSP00000418775.1:p.Ser1437Ter
ENST00000493919.5:c.997_1000dup	ENSP00000418819.1:p.Ser334Ter
ENST00000586385.5:c.5-12574_5-12571dup	ENSP00000465818.1:n.5-12574_5-12571dup
ENST00000591534.5:c.-43-2004_-43-2001dup	ENSP00000467329.1:n.-43-2004_-43-2001dup
ENST00000591849.5:c.-98-26335_-98-26332dup	ENSP00000465347.1:n.-98-26335_-98-26332dup
ENST00000621897.1:n.338_341dup
NM_007294.3:c.4447_4450dup , LRG_292t1:c.4447_4450dup	NP_009225.1:p.Ser1484Ter
NM_007297.3:c.4306_4309dup	NP_009228.2:p.Ser1437Ter
NM_007298.3:c.1135_1138dup	NP_009229.2:p.Ser380Ter
NM_007299.3:c.1135_1138dup	NP_009230.2:p.Ser380Ter
NM_007300.3:c.4510_4513dup	NP_009231.2:p.Ser1505Ter
NR_027676.1:n.4583_4586dup
NM_007294.4:c.4447_4450dup MANE Select	NP_009225.1:p.Ser1484Ter
NM_007297.4:c.4306_4309dup	NP_009228.2:p.Ser1437Ter
NM_007299.4:c.1135_1138dup	NP_009230.2:p.Ser380Ter
NM_007300.4:c.4510_4513dup	NP_009231.2:p.Ser1505Ter
NR_027676.2:n.4624_4627dup