Canonical Allele Identifier: CA003083

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 254459
• ClinVar RCV Id: RCV000241076 ; RCV000785417
• dbSNP Id: rs80357833
• MyVariant Identifiers: chr17:g.41222998_41222999dupTT (hg19) ; chr17:g.41222997_41222998insTT (hg19) ; chr17:g.43070981_43070982dupTT (hg38) ; chr17:g.43070980_43070981insTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43070982_43070983dup , CM000679.2:g.43070982_43070983dup	GRCh38
NC_000017.10:g.41222999_41223000dup , CM000679.1:g.41222999_41223000dup	GRCh37
NC_000017.9:g.38476525_38476526dup	NCBI36
NG_005905.2:g.147002_147003dup , LRG_292:g.147002_147003dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4929_4930dup	ENSP00000417241.2:p.Arg1644LysfsTer14
ENST00000470026.6:c.4932_4933dup	ENSP00000419274.2:p.Arg1645LysfsTer14
ENST00000473961.6:c.4806_4807dup	ENSP00000420201.2:p.Arg1603LysfsTer14
ENST00000476777.6:c.4926_4927dup	ENSP00000417554.2:p.Arg1643LysfsTer14
ENST00000477152.6:c.4854_4855dup	ENSP00000419988.2:p.Arg1619LysfsTer14
ENST00000478531.6:c.1620_1621dup	ENSP00000420412.2:p.Arg541LysfsTer14
ENST00000489037.2:c.4854_4855dup	ENSP00000420781.2:p.Arg1619LysfsTer14
ENST00000493919.6:c.1482_1483dup	ENSP00000418819.2:p.Arg495LysfsTer14
ENST00000494123.6:c.4932_4933dup	ENSP00000419103.2:p.Arg1645LysfsTer14
ENST00000497488.2:c.4044_4045dup	ENSP00000418986.2:p.Arg1349LysfsTer14
ENST00000618469.2:c.4932_4933dup	ENSP00000478114.2:p.Arg1645LysfsTer14
ENST00000634433.2:c.4809_4810dup	ENSP00000489431.2:p.Arg1604LysfsTer14
ENST00000644379.2:c.4998_4999dup	ENSP00000496570.2:p.Arg1667LysfsTer14
ENST00000644555.2:c.1482_1483dup	ENSP00000494614.2:p.Arg495LysfsTer14
ENST00000652672.2:c.4791_4792dup	ENSP00000498906.2:p.Arg1598LysfsTer14
ENST00000484087.6:c.1494_1495dup	ENSP00000419481.2:p.Arg499LysfsTer14
ENST00000700182.1:c.1539_1540dup	ENSP00000514849.1:p.Arg514LysfsTer14
ENST00000357654.9:c.4932_4933dup MANE Select	ENSP00000350283.3:p.Arg1645LysfsTer14
ENST00000471181.7:c.4995_4996dup	ENSP00000418960.2:p.Arg1666LysfsTer14
ENST00000644379.1:c.1319_1320dup
ENST00000352993.7:c.1506_1507dup	ENSP00000312236.5:p.Arg503LysfsTer14
ENST00000357654.7:c.4932_4933dup	ENSP00000350283.3:p.Arg1645LysfsTer14
ENST00000461221.5:c.*4715_*4716dup	ENSP00000418548.1:n.*4715_*4716dup
ENST00000468300.5:c.1620_1621dup	ENSP00000417148.1:p.Arg541LysfsTer14
ENST00000471181.6:c.4995_4996dup	ENSP00000418960.2:p.Arg1666LysfsTer14
ENST00000472490.1:n.85_86dup
ENST00000478531.5:c.1620_1621dup	ENSP00000420412.1:p.Arg541LysfsTer14
ENST00000484087.5:c.1245_1246dup	ENSP00000419481.1:p.Arg416LysfsTer14
ENST00000491747.6:c.1620_1621dup	ENSP00000420705.2:p.Arg541LysfsTer14
ENST00000493795.5:c.4791_4792dup	ENSP00000418775.1:p.Arg1598LysfsTer14
ENST00000493919.5:c.1482_1483dup	ENSP00000418819.1:p.Arg495LysfsTer14
ENST00000586385.5:c.5-7031_5-7030dup	ENSP00000465818.1:n.5-7031_5-7030dup
ENST00000591534.5:c.405_406dup	ENSP00000467329.1:p.Arg136LysfsTer14
ENST00000591849.5:c.-98-20792_-98-20791dup	ENSP00000465347.1:n.-98-20792_-98-20791du...
NM_007294.3:c.4932_4933dup , LRG_292t1:c.4932_4933dup	NP_009225.1:p.Arg1645LysfsTer14
NM_007297.3:c.4791_4792dup	NP_009228.2:p.Arg1598LysfsTer14
NM_007298.3:c.1620_1621dup	NP_009229.2:p.Arg541LysfsTer14
NM_007299.3:c.1620_1621dup	NP_009230.2:p.Arg541LysfsTer14
NM_007300.3:c.4995_4996dup	NP_009231.2:p.Arg1666LysfsTer14
NR_027676.1:n.5068_5069dup
NM_007294.4:c.4932_4933dup MANE Select	NP_009225.1:p.Arg1645LysfsTer14
NM_007297.4:c.4791_4792dup	NP_009228.2:p.Arg1598LysfsTer14
NM_007299.4:c.1620_1621dup	NP_009230.2:p.Arg541LysfsTer14
NM_007300.4:c.4995_4996dup	NP_009231.2:p.Arg1666LysfsTer14
NR_027676.2:n.5109_5110dup