Canonical Allele Identifier: CA658824727

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 548322
• ClinVar RCV Id: RCV000661380
• dbSNP Id: rs1555579738
• MyVariant Identifiers: chr17:g.41219690_41219691insG (hg19) ; chr17:g.43067673_43067674insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067673_43067674insG , CM000679.2:g.43067673_43067674insG	GRCh38
NC_000017.10:g.41219690_41219691insG , CM000679.1:g.41219690_41219691insG	GRCh37
NC_000017.9:g.38473216_38473217insG	NCBI36
NG_005905.2:g.150310_150311insC , LRG_292:g.150310_150311insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5005_5006insC	ENSP00000417241.2:p.Arg1669ThrfsTer9
ENST00000470026.6:c.5008_5009insC	ENSP00000419274.2:p.Arg1670ThrfsTer9
ENST00000473961.6:c.4882_4883insC	ENSP00000420201.2:p.Arg1628ThrfsTer9
ENST00000476777.6:c.5002_5003insC	ENSP00000417554.2:p.Arg1668ThrfsTer9
ENST00000477152.6:c.4930_4931insC	ENSP00000419988.2:p.Arg1644ThrfsTer9
ENST00000478531.6:c.1696_1697insC	ENSP00000420412.2:p.Arg566ThrfsTer9
ENST00000489037.2:c.4930_4931insC	ENSP00000420781.2:p.Arg1644ThrfsTer9
ENST00000493919.6:c.1558_1559insC	ENSP00000418819.2:p.Arg520ThrfsTer9
ENST00000494123.6:c.5008_5009insC	ENSP00000419103.2:p.Arg1670ThrfsTer9
ENST00000497488.2:c.4120_4121insC	ENSP00000418986.2:p.Arg1374ThrfsTer9
ENST00000618469.2:c.5008_5009insC	ENSP00000478114.2:p.Arg1670ThrfsTer9
ENST00000634433.2:c.4885_4886insC	ENSP00000489431.2:p.Arg1629ThrfsTer9
ENST00000644379.2:c.5074_5075insC	ENSP00000496570.2:p.Arg1692ThrfsTer9
ENST00000644555.2:c.1558_1559insC	ENSP00000494614.2:p.Arg520ThrfsTer9
ENST00000652672.2:c.4867_4868insC	ENSP00000498906.2:p.Arg1623ThrfsTer9
ENST00000484087.6:c.1570_1571insC	ENSP00000419481.2:p.Arg524ThrfsTer9
ENST00000357654.9:c.5008_5009insC MANE Select	ENSP00000350283.3:p.Arg1670ThrfsTer9
ENST00000471181.7:c.5071_5072insC	ENSP00000418960.2:p.Arg1691ThrfsTer9
ENST00000644379.1:c.1395_1396insC
ENST00000352993.7:c.1582_1583insC	ENSP00000312236.5:p.Arg528ThrfsTer9
ENST00000357654.7:c.5008_5009insC	ENSP00000350283.3:p.Arg1670ThrfsTer9
ENST00000461221.5:c.*4791_*4792insC	ENSP00000418548.1:n.*4791_*4792insC
ENST00000468300.5:c.1696_1697insC	ENSP00000417148.1:p.Arg566ThrfsTer9
ENST00000471181.6:c.5071_5072insC	ENSP00000418960.2:p.Arg1691ThrfsTer9
ENST00000472490.1:n.161_162insC
ENST00000478531.5:c.1696_1697insC	ENSP00000420412.1:p.Arg566ThrfsTer9
ENST00000484087.5:c.1321_1322insC	ENSP00000419481.1:p.Arg441ThrfsTer9
ENST00000491747.6:c.1696_1697insC	ENSP00000420705.2:p.Arg566ThrfsTer9
ENST00000493795.5:c.4867_4868insC	ENSP00000418775.1:p.Arg1623ThrfsTer9
ENST00000493919.5:c.1558_1559insC	ENSP00000418819.1:p.Arg520ThrfsTer9
ENST00000586385.5:c.5-3723_5-3722insC	ENSP00000465818.1:n.5-3723_5-3722insC
ENST00000591534.5:c.481_482insC	ENSP00000467329.1:p.Arg161ThrfsTer9
ENST00000591849.5:c.-98-17484_-98-17483insC	ENSP00000465347.1:n.-98-17484_-98-17483insC
NM_007294.3:c.5008_5009insC , LRG_292t1:c.5008_5009insC	NP_009225.1:p.Arg1670ThrfsTer9
NM_007297.3:c.4867_4868insC	NP_009228.2:p.Arg1623ThrfsTer9
NM_007298.3:c.1696_1697insC	NP_009229.2:p.Arg566ThrfsTer9
NM_007299.3:c.1696_1697insC	NP_009230.2:p.Arg566ThrfsTer9
NM_007300.3:c.5071_5072insC	NP_009231.2:p.Arg1691ThrfsTer9
NR_027676.1:n.5144_5145insC
NM_007294.4:c.5008_5009insC MANE Select	NP_009225.1:p.Arg1670ThrfsTer9
NM_007297.4:c.4867_4868insC	NP_009228.2:p.Arg1623ThrfsTer9
NM_007299.4:c.1696_1697insC	NP_009230.2:p.Arg566ThrfsTer9
NM_007300.4:c.5071_5072insC	NP_009231.2:p.Arg1691ThrfsTer9
NR_027676.2:n.5185_5186insC