Canonical Allele Identifier: CA327949

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55298
• ClinVar RCV Id: RCV000577176 ; RCV000661029
• dbSNP Id: rs397509198
• MyVariant Identifiers: chr17:g.41223095dupC (hg19) ; chr17:g.41223094_41223095insC (hg19) ; chr17:g.43071078dupC (hg38) ; chr17:g.43071077_43071078insC (hg38)
• PubMed: PMID:15564800

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43071078dup , CM000679.2:g.43071078dup	GRCh38
NC_000017.10:g.41223095dup , CM000679.1:g.41223095dup	GRCh37
NC_000017.9:g.38476621dup	NCBI36
NG_005905.2:g.146906dup , LRG_292:g.146906dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4833dup	ENSP00000417241.2:p.Ser1612GlufsTer9
ENST00000470026.6:c.4836dup	ENSP00000419274.2:p.Ser1613GlufsTer9
ENST00000473961.6:c.4710dup	ENSP00000420201.2:p.Ser1571GlufsTer9
ENST00000476777.6:c.4830dup	ENSP00000417554.2:p.Ser1611GlufsTer9
ENST00000477152.6:c.4758dup	ENSP00000419988.2:p.Ser1587GlufsTer9
ENST00000478531.6:c.1524dup	ENSP00000420412.2:p.Ser509GlufsTer9
ENST00000489037.2:c.4758dup	ENSP00000420781.2:p.Ser1587GlufsTer9
ENST00000493919.6:c.1386dup	ENSP00000418819.2:p.Ser463GlufsTer9
ENST00000494123.6:c.4836dup	ENSP00000419103.2:p.Ser1613GlufsTer9
ENST00000497488.2:c.3948dup	ENSP00000418986.2:p.Ser1317GlufsTer9
ENST00000618469.2:c.4836dup	ENSP00000478114.2:p.Ser1613GlufsTer9
ENST00000634433.2:c.4713dup	ENSP00000489431.2:p.Ser1572GlufsTer9
ENST00000644379.2:c.4902dup	ENSP00000496570.2:p.Ser1635GlufsTer9
ENST00000644555.2:c.1386dup	ENSP00000494614.2:p.Ser463GlufsTer9
ENST00000652672.2:c.4695dup	ENSP00000498906.2:p.Ser1566GlufsTer9
ENST00000484087.6:c.1398dup	ENSP00000419481.2:p.Ser467GlufsTer9
ENST00000700182.1:c.1443dup	ENSP00000514849.1:p.Ser482GlufsTer9
ENST00000357654.9:c.4836dup MANE Select	ENSP00000350283.3:p.Ser1613GlufsTer9
ENST00000471181.7:c.4899dup	ENSP00000418960.2:p.Ser1634GlufsTer9
ENST00000644379.1:c.1223dup
ENST00000352993.7:c.1410dup	ENSP00000312236.5:p.Ser471GlufsTer9
ENST00000357654.7:c.4836dup	ENSP00000350283.3:p.Ser1613GlufsTer9
ENST00000461221.5:c.*4619dup	ENSP00000418548.1:n.*4619dup
ENST00000468300.5:c.1524dup	ENSP00000417148.1:p.Ser509GlufsTer9
ENST00000471181.6:c.4899dup	ENSP00000418960.2:p.Ser1634GlufsTer9
ENST00000478531.5:c.1524dup	ENSP00000420412.1:p.Ser509GlufsTer9
ENST00000484087.5:c.1149dup	ENSP00000419481.1:p.Ser384GlufsTer9
ENST00000491747.6:c.1524dup	ENSP00000420705.2:p.Ser509GlufsTer9
ENST00000493795.5:c.4695dup	ENSP00000418775.1:p.Ser1566GlufsTer9
ENST00000493919.5:c.1386dup	ENSP00000418819.1:p.Ser463GlufsTer9
ENST00000586385.5:c.5-7127dup	ENSP00000465818.1:n.5-7127dup
ENST00000591534.5:c.309dup	ENSP00000467329.1:p.Ser104GlufsTer9
ENST00000591849.5:c.-98-20888dup	ENSP00000465347.1:n.-98-20888dup
NM_007294.3:c.4836dup , LRG_292t1:c.4836dup	NP_009225.1:p.Ser1613GlufsTer9
NM_007297.3:c.4695dup	NP_009228.2:p.Ser1566GlufsTer9
NM_007298.3:c.1524dup	NP_009229.2:p.Ser509GlufsTer9
NM_007299.3:c.1524dup	NP_009230.2:p.Ser509GlufsTer9
NM_007300.3:c.4899dup	NP_009231.2:p.Ser1634GlufsTer9
NR_027676.1:n.4972dup
NM_007294.4:c.4836dup MANE Select	NP_009225.1:p.Ser1613GlufsTer9
NM_007297.4:c.4695dup	NP_009228.2:p.Ser1566GlufsTer9
NM_007299.4:c.1524dup	NP_009230.2:p.Ser509GlufsTer9
NM_007300.4:c.4899dup	NP_009231.2:p.Ser1634GlufsTer9
NR_027676.2:n.5013dup