Canonical Allele Identifier: CA10580522

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 231705
• ClinVar RCV Id: RCV000216050 ; RCV000758826
• dbSNP Id: rs876659310
• MyVariant Identifiers: chr17:g.41228571_41228589delinsAAA (hg19) ; chr17:g.43076554_43076572delinsAAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076554_43076572delinsAAA , CM000679.2:g.43076554_43076572delinsAAA	GRCh38
NC_000017.10:g.41228571_41228589delinsAAA , CM000679.1:g.41228571_41228589delinsAAA	GRCh37
NC_000017.9:g.38482097_38482115delinsAAA	NCBI36
NG_005905.2:g.141412_141430delinsTTT , LRG_292:g.141412_141430delinsTTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4397_4415delinsTTT	ENSP00000417241.2:p.Gln1466LeufsTer?
ENST00000470026.6:c.4400_4418delinsTTT	ENSP00000419274.2:p.Gln1467LeufsTer?
ENST00000473961.6:c.4274_4292delinsTTT	ENSP00000420201.2:p.Gln1425LeufsTer?
ENST00000476777.6:c.4394_4412delinsTTT	ENSP00000417554.2:p.Gln1465LeufsTer?
ENST00000477152.6:c.4322_4340delinsTTT	ENSP00000419988.2:p.Gln1441LeufsTer?
ENST00000478531.6:c.1088_1106delinsTTT	ENSP00000420412.2:p.Gln363LeufsTer?
ENST00000489037.2:c.4322_4340delinsTTT	ENSP00000420781.2:p.Gln1441LeufsTer?
ENST00000493919.6:c.950_968delinsTTT	ENSP00000418819.2:p.Gln317LeufsTer?
ENST00000494123.6:c.4400_4418delinsTTT	ENSP00000419103.2:p.Gln1467LeufsTer?
ENST00000497488.2:c.3512_3530delinsTTT	ENSP00000418986.2:p.Gln1171LeufsTer?
ENST00000618469.2:c.4400_4418delinsTTT	ENSP00000478114.2:p.Gln1467LeufsTer?
ENST00000634433.2:c.4277_4295delinsTTT	ENSP00000489431.2:p.Gln1426LeufsTer?
ENST00000644379.2:c.4466_4484delinsTTT	ENSP00000496570.2:p.Gln1489LeufsTer?
ENST00000644555.2:c.950_968delinsTTT	ENSP00000494614.2:p.Gln317LeufsTer?
ENST00000652672.2:c.4259_4277delinsTTT	ENSP00000498906.2:p.Gln1420LeufsTer?
ENST00000484087.6:c.962_980delinsTTT	ENSP00000419481.2:p.Gln321LeufsTer?
ENST00000700182.1:c.1007_1025delinsTTT	ENSP00000514849.1:p.Gln336LeufsTer?
ENST00000357654.9:c.4400_4418delinsTTT MANE Select	ENSP00000350283.3:p.Gln1467LeufsTer?
ENST00000471181.7:c.4463_4481delinsTTT	ENSP00000418960.2:p.Gln1488LeufsTer?
ENST00000644379.1:c.787_805delinsTTT
ENST00000352993.7:c.974_992delinsTTT	ENSP00000312236.5:p.Gln325LeufsTer?
ENST00000357654.7:c.4400_4418delinsTTT	ENSP00000350283.3:p.Gln1467LeufsTer?
ENST00000461221.5:c.*4183_*4201delinsTTT	ENSP00000418548.1:n.*4183_*4201delinsTTT
ENST00000461574.1:c.691_709delinsTTT
ENST00000468300.5:c.1088_1106delinsTTT	ENSP00000417148.1:p.Gln363LeufsTer?
ENST00000471181.6:c.4463_4481delinsTTT	ENSP00000418960.2:p.Gln1488LeufsTer?
ENST00000478531.5:c.1088_1106delinsTTT	ENSP00000420412.1:p.Gln363LeufsTer?
ENST00000484087.5:c.713_731delinsTTT	ENSP00000419481.1:p.Gln238LeufsTer?
ENST00000487825.5:c.716_734delinsTTT	ENSP00000418212.1:p.Gln239LeufsTer?
ENST00000491747.6:c.1088_1106delinsTTT	ENSP00000420705.2:p.Gln363LeufsTer?
ENST00000493795.5:c.4259_4277delinsTTT	ENSP00000418775.1:p.Gln1420LeufsTer?
ENST00000493919.5:c.950_968delinsTTT	ENSP00000418819.1:p.Gln317LeufsTer?
ENST00000586385.5:c.5-12621_5-12603delinsTTT	ENSP00000465818.1:n.5-12621_5-12603delins...
ENST00000591534.5:c.-43-2051_-43-2033delinsTTT	ENSP00000467329.1:n.-43-2051_-43-2033deli...
ENST00000591849.5:c.-98-26382_-98-26364delinsTTT	ENSP00000465347.1:n.-98-26382_-98-26364de...
ENST00000621897.1:n.291_309delinsTTT
NM_007294.3:c.4400_4418delinsTTT , LRG_292t1:c.4400_4418delinsTTT	NP_009225.1:p.Gln1467LeufsTer?
NM_007297.3:c.4259_4277delinsTTT	NP_009228.2:p.Gln1420LeufsTer?
NM_007298.3:c.1088_1106delinsTTT	NP_009229.2:p.Gln363LeufsTer?
NM_007299.3:c.1088_1106delinsTTT	NP_009230.2:p.Gln363LeufsTer?
NM_007300.3:c.4463_4481delinsTTT	NP_009231.2:p.Gln1488LeufsTer?
NR_027676.1:n.4536_4554delinsTTT
NM_007294.4:c.4400_4418delinsTTT MANE Select	NP_009225.1:p.Gln1467LeufsTer?
NM_007297.4:c.4259_4277delinsTTT	NP_009228.2:p.Gln1420LeufsTer?
NM_007299.4:c.1088_1106delinsTTT	NP_009230.2:p.Gln363LeufsTer?
NM_007300.4:c.4463_4481delinsTTT	NP_009231.2:p.Gln1488LeufsTer?
NR_027676.2:n.4577_4595delinsTTT