Canonical Allele Identifier: CA913187500

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1037303
• ClinVar RCV Id: RCV001340434
• dbSNP Id: rs2053062886

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082533_43082535dup , CM000679.2:g.43082533_43082535dup	GRCh38
NC_000017.10:g.41234550_41234552dup , CM000679.1:g.41234550_41234552dup	GRCh37
NC_000017.9:g.38488076_38488078dup	NCBI36
NG_005905.2:g.135450_135452dup , LRG_292:g.135450_135452dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4227_4229dup	ENSP00000417241.2:p.Glu1410_Met1411insGlu
ENST00000470026.6:c.4227_4229dup	ENSP00000419274.2:p.Glu1410_Met1411insGlu
ENST00000473961.6:c.4101_4103dup	ENSP00000420201.2:p.Glu1368_Met1369insGlu
ENST00000476777.6:c.4221_4223dup	ENSP00000417554.2:p.Glu1408_Met1409insGlu
ENST00000477152.6:c.4149_4151dup	ENSP00000419988.2:p.Glu1384_Met1385insGlu
ENST00000478531.6:c.915_917dup	ENSP00000420412.2:p.Glu306_Met307insGlu
ENST00000489037.2:c.4149_4151dup	ENSP00000420781.2:p.Glu1384_Met1385insGlu
ENST00000493919.6:c.777_779dup	ENSP00000418819.2:p.Glu260_Met261insGlu
ENST00000494123.6:c.4227_4229dup	ENSP00000419103.2:p.Glu1410_Met1411insGlu
ENST00000497488.2:c.3339_3341dup	ENSP00000418986.2:p.Glu1114_Met1115insGlu
ENST00000618469.2:c.4227_4229dup	ENSP00000478114.2:p.Glu1410_Met1411insGlu
ENST00000634433.2:c.4104_4106dup	ENSP00000489431.2:p.Glu1369_Met1370insGlu
ENST00000644379.2:c.4227_4229dup	ENSP00000496570.2:p.Glu1410_Met1411insGlu
ENST00000644555.2:c.777_779dup	ENSP00000494614.2:p.Glu260_Met261insGlu
ENST00000652672.2:c.4086_4088dup	ENSP00000498906.2:p.Glu1363_Met1364insGlu
ENST00000484087.6:c.792_794dup	ENSP00000419481.2:p.Glu265_Met266insGlu
ENST00000700182.1:c.837_839dup	ENSP00000514849.1:p.Glu280_Met281insGlu
ENST00000357654.9:c.4227_4229dup MANE Select	ENSP00000350283.3:p.Glu1410_Met1411insGlu
ENST00000471181.7:c.4227_4229dup	ENSP00000418960.2:p.Glu1410_Met1411insGlu
ENST00000644379.1:c.548_550dup
ENST00000352993.7:c.801_803dup	ENSP00000312236.5:p.Glu268_Met269insGlu
ENST00000357654.7:c.4227_4229dup	ENSP00000350283.3:p.Glu1410_Met1411insGlu
ENST00000461221.5:c.*4010_*4012dup	ENSP00000418548.1:n.*4010_*4012dup
ENST00000461574.1:c.521_523dup
ENST00000468300.5:c.918_920dup	ENSP00000417148.1:p.Glu307_Met308insGlu
ENST00000471181.6:c.4227_4229dup	ENSP00000418960.2:p.Glu1410_Met1411insGlu
ENST00000478531.5:c.915_917dup	ENSP00000420412.1:p.Glu306_Met307insGlu
ENST00000484087.5:c.540_542dup	ENSP00000419481.1:p.Glu181_Met182insGlu
ENST00000487825.5:c.543_545dup	ENSP00000418212.1:p.Glu182_Met183insGlu
ENST00000491747.6:c.918_920dup	ENSP00000420705.2:p.Glu307_Met308insGlu
ENST00000493795.5:c.4086_4088dup	ENSP00000418775.1:p.Glu1363_Met1364insGlu
ENST00000493919.5:c.777_779dup	ENSP00000418819.1:p.Glu260_Met261insGlu
ENST00000586385.5:c.5-18583_5-18581dup	ENSP00000465818.1:n.5-18583_5-18581dup
ENST00000591534.5:c.-43-8013_-43-8011dup	ENSP00000467329.1:n.-43-8013_-43-8011dup
ENST00000591849.5:c.-98-32344_-98-32342dup	ENSP00000465347.1:n.-98-32344_-98-32342dup
ENST00000621897.1:n.121_123dup
NM_007294.3:c.4227_4229dup , LRG_292t1:c.4227_4229dup	NP_009225.1:p.Glu1410_Met1411insGlu
NM_007297.3:c.4086_4088dup	NP_009228.2:p.Glu1363_Met1364insGlu
NM_007298.3:c.918_920dup	NP_009229.2:p.Glu307_Met308insGlu
NM_007299.3:c.918_920dup	NP_009230.2:p.Glu307_Met308insGlu
NM_007300.3:c.4227_4229dup	NP_009231.2:p.Glu1410_Met1411insGlu
NR_027676.1:n.4363_4365dup
NM_007294.4:c.4227_4229dup MANE Select	NP_009225.1:p.Glu1410_Met1411insGlu
NM_007297.4:c.4086_4088dup	NP_009228.2:p.Glu1363_Met1364insGlu
NM_007299.4:c.918_920dup	NP_009230.2:p.Glu307_Met308insGlu
NM_007300.4:c.4227_4229dup	NP_009231.2:p.Glu1410_Met1411insGlu
NR_027676.2:n.4404_4406dup