Canonical Allele Identifier: CA913188854

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 922196
• ClinVar RCV Id: RCV001182127
• dbSNP Id: rs2052727486

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076534dup , CM000679.2:g.43076534dup	GRCh38
NC_000017.10:g.41228551dup , CM000679.1:g.41228551dup	GRCh37
NC_000017.9:g.38482077dup	NCBI36
NG_005905.2:g.141450dup , LRG_292:g.141450dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4435dup	ENSP00000417241.2:p.Ser1479PhefsTer4
ENST00000470026.6:c.4438dup	ENSP00000419274.2:p.Ser1480PhefsTer4
ENST00000473961.6:c.4312dup	ENSP00000420201.2:p.Ser1438PhefsTer4
ENST00000476777.6:c.4432dup	ENSP00000417554.2:p.Ser1478PhefsTer4
ENST00000477152.6:c.4360dup	ENSP00000419988.2:p.Ser1454PhefsTer4
ENST00000478531.6:c.1126dup	ENSP00000420412.2:p.Ser376PhefsTer4
ENST00000489037.2:c.4360dup	ENSP00000420781.2:p.Ser1454PhefsTer4
ENST00000493919.6:c.988dup	ENSP00000418819.2:p.Ser330PhefsTer4
ENST00000494123.6:c.4438dup	ENSP00000419103.2:p.Ser1480PhefsTer4
ENST00000497488.2:c.3550dup	ENSP00000418986.2:p.Ser1184PhefsTer4
ENST00000618469.2:c.4438dup	ENSP00000478114.2:p.Ser1480PhefsTer4
ENST00000634433.2:c.4315dup	ENSP00000489431.2:p.Ser1439PhefsTer4
ENST00000644379.2:c.4504dup	ENSP00000496570.2:p.Ser1502PhefsTer4
ENST00000644555.2:c.988dup	ENSP00000494614.2:p.Ser330PhefsTer4
ENST00000652672.2:c.4297dup	ENSP00000498906.2:p.Ser1433PhefsTer4
ENST00000484087.6:c.1000dup	ENSP00000419481.2:p.Ser334PhefsTer4
ENST00000700182.1:c.1045dup	ENSP00000514849.1:p.Ser349PhefsTer4
ENST00000357654.9:c.4438dup MANE Select	ENSP00000350283.3:p.Ser1480PhefsTer4
ENST00000471181.7:c.4501dup	ENSP00000418960.2:p.Ser1501PhefsTer4
ENST00000644379.1:c.825dup
ENST00000352993.7:c.1012dup	ENSP00000312236.5:p.Ser338PhefsTer4
ENST00000357654.7:c.4438dup	ENSP00000350283.3:p.Ser1480PhefsTer4
ENST00000461221.5:c.*4221dup	ENSP00000418548.1:n.*4221dup
ENST00000468300.5:c.1126dup	ENSP00000417148.1:p.Ser376PhefsTer4
ENST00000471181.6:c.4501dup	ENSP00000418960.2:p.Ser1501PhefsTer4
ENST00000478531.5:c.1126dup	ENSP00000420412.1:p.Ser376PhefsTer4
ENST00000484087.5:c.751dup	ENSP00000419481.1:p.Ser251PhefsTer4
ENST00000487825.5:c.754dup	ENSP00000418212.1:p.Ser252PhefsTer4
ENST00000491747.6:c.1126dup	ENSP00000420705.2:p.Ser376PhefsTer4
ENST00000493795.5:c.4297dup	ENSP00000418775.1:p.Ser1433PhefsTer4
ENST00000493919.5:c.988dup	ENSP00000418819.1:p.Ser330PhefsTer4
ENST00000586385.5:c.5-12583dup	ENSP00000465818.1:n.5-12583dup
ENST00000591534.5:c.-43-2013dup	ENSP00000467329.1:n.-43-2013dup
ENST00000591849.5:c.-98-26344dup	ENSP00000465347.1:n.-98-26344dup
ENST00000621897.1:n.329dup
NM_007294.3:c.4438dup , LRG_292t1:c.4438dup	NP_009225.1:p.Ser1480PhefsTer4
NM_007297.3:c.4297dup	NP_009228.2:p.Ser1433PhefsTer4
NM_007298.3:c.1126dup	NP_009229.2:p.Ser376PhefsTer4
NM_007299.3:c.1126dup	NP_009230.2:p.Ser376PhefsTer4
NM_007300.3:c.4501dup	NP_009231.2:p.Ser1501PhefsTer4
NR_027676.1:n.4574dup
NM_007294.4:c.4438dup MANE Select	NP_009225.1:p.Ser1480PhefsTer4
NM_007297.4:c.4297dup	NP_009228.2:p.Ser1433PhefsTer4
NM_007299.4:c.1126dup	NP_009230.2:p.Ser376PhefsTer4
NM_007300.4:c.4501dup	NP_009231.2:p.Ser1501PhefsTer4
NR_027676.2:n.4615dup