Canonical Allele Identifier: CA10589634

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 266507
• ClinVar RCV Id: RCV000257508
• dbSNP Id: rs1555579747
• MyVariant Identifiers: chr17:g.41219692_41219704dupGGCAAACTTGTAC (hg19) ; chr17:g.41219691_41219692insGGCAAACTTGTAC (hg19) ; chr17:g.43067675_43067687dupGGCAAACTTGTAC (hg38) ; chr17:g.43067674_43067675insGGCAAACTTGTAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067675_43067687dup , CM000679.2:g.43067675_43067687dup	GRCh38
NC_000017.10:g.41219692_41219704dup , CM000679.1:g.41219692_41219704dup	GRCh37
NC_000017.9:g.38473218_38473230dup	NCBI36
NG_005905.2:g.150297_150309dup , LRG_292:g.150297_150309dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4992_5004dup	ENSP00000417241.2:p.Arg1669ValfsTer13
ENST00000470026.6:c.4995_5007dup	ENSP00000419274.2:p.Arg1670ValfsTer13
ENST00000473961.6:c.4869_4881dup	ENSP00000420201.2:p.Arg1628ValfsTer13
ENST00000476777.6:c.4989_5001dup	ENSP00000417554.2:p.Arg1668ValfsTer13
ENST00000477152.6:c.4917_4929dup	ENSP00000419988.2:p.Arg1644ValfsTer13
ENST00000478531.6:c.1683_1695dup	ENSP00000420412.2:p.Arg566ValfsTer13
ENST00000489037.2:c.4917_4929dup	ENSP00000420781.2:p.Arg1644ValfsTer13
ENST00000493919.6:c.1545_1557dup	ENSP00000418819.2:p.Arg520ValfsTer13
ENST00000494123.6:c.4995_5007dup	ENSP00000419103.2:p.Arg1670ValfsTer13
ENST00000497488.2:c.4107_4119dup	ENSP00000418986.2:p.Arg1374ValfsTer13
ENST00000618469.2:c.4995_5007dup	ENSP00000478114.2:p.Arg1670ValfsTer13
ENST00000634433.2:c.4872_4884dup	ENSP00000489431.2:p.Arg1629ValfsTer13
ENST00000644379.2:c.5061_5073dup	ENSP00000496570.2:p.Arg1692ValfsTer13
ENST00000644555.2:c.1545_1557dup	ENSP00000494614.2:p.Arg520ValfsTer13
ENST00000652672.2:c.4854_4866dup	ENSP00000498906.2:p.Arg1623ValfsTer13
ENST00000484087.6:c.1557_1569dup	ENSP00000419481.2:p.Arg524ValfsTer13
ENST00000357654.9:c.4995_5007dup MANE Select	ENSP00000350283.3:p.Arg1670ValfsTer13
ENST00000471181.7:c.5058_5070dup	ENSP00000418960.2:p.Arg1691ValfsTer13
ENST00000644379.1:c.1382_1394dup
ENST00000352993.7:c.1569_1581dup	ENSP00000312236.5:p.Arg528ValfsTer13
ENST00000357654.7:c.4995_5007dup	ENSP00000350283.3:p.Arg1670ValfsTer13
ENST00000461221.5:c.*4778_*4790dup	ENSP00000418548.1:n.*4778_*4790dup
ENST00000468300.5:c.1683_1695dup	ENSP00000417148.1:p.Arg566ValfsTer13
ENST00000471181.6:c.5058_5070dup	ENSP00000418960.2:p.Arg1691ValfsTer13
ENST00000472490.1:n.148_160dup
ENST00000478531.5:c.1683_1695dup	ENSP00000420412.1:p.Arg566ValfsTer13
ENST00000484087.5:c.1308_1320dup	ENSP00000419481.1:p.Arg441ValfsTer13
ENST00000491747.6:c.1683_1695dup	ENSP00000420705.2:p.Arg566ValfsTer13
ENST00000493795.5:c.4854_4866dup	ENSP00000418775.1:p.Arg1623ValfsTer13
ENST00000493919.5:c.1545_1557dup	ENSP00000418819.1:p.Arg520ValfsTer13
ENST00000586385.5:c.5-3736_5-3724dup	ENSP00000465818.1:n.5-3736_5-3724dup
ENST00000591534.5:c.468_480dup	ENSP00000467329.1:p.Arg161ValfsTer13
ENST00000591849.5:c.-98-17497_-98-17485dup	ENSP00000465347.1:n.-98-17497_-98-17485dup
NM_007294.3:c.4995_5007dup , LRG_292t1:c.4995_5007dup	NP_009225.1:p.Arg1670ValfsTer13
NM_007297.3:c.4854_4866dup	NP_009228.2:p.Arg1623ValfsTer13
NM_007298.3:c.1683_1695dup	NP_009229.2:p.Arg566ValfsTer13
NM_007299.3:c.1683_1695dup	NP_009230.2:p.Arg566ValfsTer13
NM_007300.3:c.5058_5070dup	NP_009231.2:p.Arg1691ValfsTer13
NR_027676.1:n.5131_5143dup
NM_007294.4:c.4995_5007dup MANE Select	NP_009225.1:p.Arg1670ValfsTer13
NM_007297.4:c.4854_4866dup	NP_009228.2:p.Arg1623ValfsTer13
NM_007299.4:c.1683_1695dup	NP_009230.2:p.Arg566ValfsTer13
NM_007300.4:c.5058_5070dup	NP_009231.2:p.Arg1691ValfsTer13
NR_027676.2:n.5172_5184dup