Canonical Allele Identifier: CA658825016

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 548299
• ClinVar RCV Id: RCV000661313
• dbSNP Id: rs1555582663
• MyVariant Identifiers: chr17:g.41228590_41228591insT (hg19) ; chr17:g.43076573_43076574insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076573_43076574insT , CM000679.2:g.43076573_43076574insT	GRCh38
NC_000017.10:g.41228590_41228591insT , CM000679.1:g.41228590_41228591insT	GRCh37
NC_000017.9:g.38482116_38482117insT	NCBI36
NG_005905.2:g.141410_141411insA , LRG_292:g.141410_141411insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4395_4396insA	ENSP00000417241.2:p.Gln1466ThrfsTer9
ENST00000470026.6:c.4398_4399insA	ENSP00000419274.2:p.Gln1467ThrfsTer9
ENST00000473961.6:c.4272_4273insA	ENSP00000420201.2:p.Gln1425ThrfsTer9
ENST00000476777.6:c.4392_4393insA	ENSP00000417554.2:p.Gln1465ThrfsTer9
ENST00000477152.6:c.4320_4321insA	ENSP00000419988.2:p.Gln1441ThrfsTer9
ENST00000478531.6:c.1086_1087insA	ENSP00000420412.2:p.Gln363ThrfsTer9
ENST00000489037.2:c.4320_4321insA	ENSP00000420781.2:p.Gln1441ThrfsTer9
ENST00000493919.6:c.948_949insA	ENSP00000418819.2:p.Gln317ThrfsTer9
ENST00000494123.6:c.4398_4399insA	ENSP00000419103.2:p.Gln1467ThrfsTer9
ENST00000497488.2:c.3510_3511insA	ENSP00000418986.2:p.Gln1171ThrfsTer9
ENST00000618469.2:c.4398_4399insA	ENSP00000478114.2:p.Gln1467ThrfsTer9
ENST00000634433.2:c.4275_4276insA	ENSP00000489431.2:p.Gln1426ThrfsTer9
ENST00000644379.2:c.4464_4465insA	ENSP00000496570.2:p.Gln1489ThrfsTer9
ENST00000644555.2:c.948_949insA	ENSP00000494614.2:p.Gln317ThrfsTer9
ENST00000652672.2:c.4257_4258insA	ENSP00000498906.2:p.Gln1420ThrfsTer9
ENST00000484087.6:c.960_961insA	ENSP00000419481.2:p.Gln321ThrfsTer9
ENST00000700182.1:c.1005_1006insA	ENSP00000514849.1:p.Gln336ThrfsTer9
ENST00000357654.9:c.4398_4399insA MANE Select	ENSP00000350283.3:p.Gln1467ThrfsTer9
ENST00000471181.7:c.4461_4462insA	ENSP00000418960.2:p.Gln1488ThrfsTer9
ENST00000644379.1:c.785_786insA
ENST00000352993.7:c.972_973insA	ENSP00000312236.5:p.Gln325ThrfsTer9
ENST00000357654.7:c.4398_4399insA	ENSP00000350283.3:p.Gln1467ThrfsTer9
ENST00000461221.5:c.*4181_*4182insA	ENSP00000418548.1:n.*4181_*4182insA
ENST00000461574.1:c.689_690insA
ENST00000468300.5:c.1086_1087insA	ENSP00000417148.1:p.Gln363ThrfsTer9
ENST00000471181.6:c.4461_4462insA	ENSP00000418960.2:p.Gln1488ThrfsTer9
ENST00000478531.5:c.1086_1087insA	ENSP00000420412.1:p.Gln363ThrfsTer9
ENST00000484087.5:c.711_712insA	ENSP00000419481.1:p.Gln238ThrfsTer9
ENST00000487825.5:c.714_715insA	ENSP00000418212.1:p.Gln239ThrfsTer9
ENST00000491747.6:c.1086_1087insA	ENSP00000420705.2:p.Gln363ThrfsTer9
ENST00000493795.5:c.4257_4258insA	ENSP00000418775.1:p.Gln1420ThrfsTer9
ENST00000493919.5:c.948_949insA	ENSP00000418819.1:p.Gln317ThrfsTer9
ENST00000586385.5:c.5-12623_5-12622insA	ENSP00000465818.1:n.5-12623_5-12622insA
ENST00000591534.5:c.-43-2053_-43-2052insA	ENSP00000467329.1:n.-43-2053_-43-2052insA
ENST00000591849.5:c.-98-26384_-98-26383insA	ENSP00000465347.1:n.-98-26384_-98-26383insA
ENST00000621897.1:n.289_290insA
NM_007294.3:c.4398_4399insA , LRG_292t1:c.4398_4399insA	NP_009225.1:p.Gln1467ThrfsTer9
NM_007297.3:c.4257_4258insA	NP_009228.2:p.Gln1420ThrfsTer9
NM_007298.3:c.1086_1087insA	NP_009229.2:p.Gln363ThrfsTer9
NM_007299.3:c.1086_1087insA	NP_009230.2:p.Gln363ThrfsTer9
NM_007300.3:c.4461_4462insA	NP_009231.2:p.Gln1488ThrfsTer9
NR_027676.1:n.4534_4535insA
NM_007294.4:c.4398_4399insA MANE Select	NP_009225.1:p.Gln1467ThrfsTer9
NM_007297.4:c.4257_4258insA	NP_009228.2:p.Gln1420ThrfsTer9
NM_007299.4:c.1086_1087insA	NP_009230.2:p.Gln363ThrfsTer9
NM_007300.4:c.4461_4462insA	NP_009231.2:p.Gln1488ThrfsTer9
NR_027676.2:n.4575_4576insA