Canonical Allele Identifier: CA10589665

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 266474
• ClinVar RCV Id: RCV000256793
• dbSNP Id: rs886040229
• MyVariant Identifiers: chr17:g.41228591_41228592insT (hg19) ; chr17:g.43076574_43076575insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076574_43076575insT , CM000679.2:g.43076574_43076575insT	GRCh38
NC_000017.10:g.41228591_41228592insT , CM000679.1:g.41228591_41228592insT	GRCh37
NC_000017.9:g.38482117_38482118insT	NCBI36
NG_005905.2:g.141409_141410insA , LRG_292:g.141409_141410insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4394_4395insA	ENSP00000417241.2:p.Ser1465ArgfsTer10
ENST00000470026.6:c.4397_4398insA	ENSP00000419274.2:p.Ser1466ArgfsTer10
ENST00000473961.6:c.4271_4272insA	ENSP00000420201.2:p.Ser1424ArgfsTer10
ENST00000476777.6:c.4391_4392insA	ENSP00000417554.2:p.Ser1464ArgfsTer10
ENST00000477152.6:c.4319_4320insA	ENSP00000419988.2:p.Ser1440ArgfsTer10
ENST00000478531.6:c.1085_1086insA	ENSP00000420412.2:p.Ser362ArgfsTer10
ENST00000489037.2:c.4319_4320insA	ENSP00000420781.2:p.Ser1440ArgfsTer10
ENST00000493919.6:c.947_948insA	ENSP00000418819.2:p.Ser316ArgfsTer10
ENST00000494123.6:c.4397_4398insA	ENSP00000419103.2:p.Ser1466ArgfsTer10
ENST00000497488.2:c.3509_3510insA	ENSP00000418986.2:p.Ser1170ArgfsTer10
ENST00000618469.2:c.4397_4398insA	ENSP00000478114.2:p.Ser1466ArgfsTer10
ENST00000634433.2:c.4274_4275insA	ENSP00000489431.2:p.Ser1425ArgfsTer10
ENST00000644379.2:c.4463_4464insA	ENSP00000496570.2:p.Ser1488ArgfsTer10
ENST00000644555.2:c.947_948insA	ENSP00000494614.2:p.Ser316ArgfsTer10
ENST00000652672.2:c.4256_4257insA	ENSP00000498906.2:p.Ser1419ArgfsTer10
ENST00000484087.6:c.959_960insA	ENSP00000419481.2:p.Ser320ArgfsTer10
ENST00000700182.1:c.1004_1005insA	ENSP00000514849.1:p.Ser335ArgfsTer10
ENST00000357654.9:c.4397_4398insA MANE Select	ENSP00000350283.3:p.Ser1466ArgfsTer10
ENST00000471181.7:c.4460_4461insA	ENSP00000418960.2:p.Ser1487ArgfsTer10
ENST00000644379.1:c.784_785insA
ENST00000352993.7:c.971_972insA	ENSP00000312236.5:p.Ser324ArgfsTer10
ENST00000357654.7:c.4397_4398insA	ENSP00000350283.3:p.Ser1466ArgfsTer10
ENST00000461221.5:c.*4180_*4181insA	ENSP00000418548.1:n.*4180_*4181insA
ENST00000461574.1:c.688_689insA
ENST00000468300.5:c.1085_1086insA	ENSP00000417148.1:p.Ser362ArgfsTer10
ENST00000471181.6:c.4460_4461insA	ENSP00000418960.2:p.Ser1487ArgfsTer10
ENST00000478531.5:c.1085_1086insA	ENSP00000420412.1:p.Ser362ArgfsTer10
ENST00000484087.5:c.710_711insA	ENSP00000419481.1:p.Ser237ArgfsTer10
ENST00000487825.5:c.713_714insA	ENSP00000418212.1:p.Ser238ArgfsTer10
ENST00000491747.6:c.1085_1086insA	ENSP00000420705.2:p.Ser362ArgfsTer10
ENST00000493795.5:c.4256_4257insA	ENSP00000418775.1:p.Ser1419ArgfsTer10
ENST00000493919.5:c.947_948insA	ENSP00000418819.1:p.Ser316ArgfsTer10
ENST00000586385.5:c.5-12624_5-12623insA	ENSP00000465818.1:n.5-12624_5-12623insA
ENST00000591534.5:c.-43-2054_-43-2053insA	ENSP00000467329.1:n.-43-2054_-43-2053insA
ENST00000591849.5:c.-98-26385_-98-26384insA	ENSP00000465347.1:n.-98-26385_-98-26384insA
ENST00000621897.1:n.288_289insA
NM_007294.3:c.4397_4398insA , LRG_292t1:c.4397_4398insA	NP_009225.1:p.Ser1466ArgfsTer10
NM_007297.3:c.4256_4257insA	NP_009228.2:p.Ser1419ArgfsTer10
NM_007298.3:c.1085_1086insA	NP_009229.2:p.Ser362ArgfsTer10
NM_007299.3:c.1085_1086insA	NP_009230.2:p.Ser362ArgfsTer10
NM_007300.3:c.4460_4461insA	NP_009231.2:p.Ser1487ArgfsTer10
NR_027676.1:n.4533_4534insA
NM_007294.4:c.4397_4398insA MANE Select	NP_009225.1:p.Ser1466ArgfsTer10
NM_007297.4:c.4256_4257insA	NP_009228.2:p.Ser1419ArgfsTer10
NM_007299.4:c.1085_1086insA	NP_009230.2:p.Ser362ArgfsTer10
NM_007300.4:c.4460_4461insA	NP_009231.2:p.Ser1487ArgfsTer10
NR_027676.2:n.4574_4575insA