Canonical Allele Identifier: CA658823939

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 548244
• ClinVar RCV Id: RCV000661159
• dbSNP Id: rs1555587113
• MyVariant Identifiers: chr17:g.41243785_41243786insAA (hg19) ; chr17:g.43091768_43091769insAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091768_43091769insAA , CM000679.2:g.43091768_43091769insAA	GRCh38
NC_000017.10:g.41243785_41243786insAA , CM000679.1:g.41243785_41243786insAA	GRCh37
NC_000017.9:g.38497311_38497312insAA	NCBI36
NG_005905.2:g.126215_126216insTT , LRG_292:g.126215_126216insTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.3826_3827insTT
ENST00000461574.2:c.3762_3763insTT	ENSP00000417241.2:p.Asn1255LeufsTer10
ENST00000470026.6:c.3762_3763insTT	ENSP00000419274.2:p.Asn1255LeufsTer10
ENST00000473961.6:c.3636_3637insTT	ENSP00000420201.2:p.Asn1213LeufsTer10
ENST00000476777.6:c.3759_3760insTT	ENSP00000417554.2:p.Asn1254LeufsTer10
ENST00000477152.6:c.3684_3685insTT	ENSP00000419988.2:p.Asn1229LeufsTer10
ENST00000478531.6:c.785-737_785-736insTT	ENSP00000420412.2:n.785-737_785-736insTT
ENST00000489037.2:c.3684_3685insTT	ENSP00000420781.2:p.Asn1229LeufsTer10
ENST00000493919.6:c.647-737_647-736insTT	ENSP00000418819.2:n.647-737_647-736insTT
ENST00000494123.6:c.3762_3763insTT	ENSP00000419103.2:p.Asn1255LeufsTer10
ENST00000497488.2:c.2874_2875insTT	ENSP00000418986.2:p.Asn959LeufsTer10
ENST00000618469.2:c.3762_3763insTT	ENSP00000478114.2:p.Asn1255LeufsTer10
ENST00000634433.2:c.3639_3640insTT	ENSP00000489431.2:p.Asn1214LeufsTer10
ENST00000644379.2:c.3762_3763insTT	ENSP00000496570.2:p.Asn1255LeufsTer10
ENST00000644555.2:c.647-737_647-736insTT	ENSP00000494614.2:n.647-737_647-736insTT
ENST00000652672.2:c.3621_3622insTT	ENSP00000498906.2:p.Asn1208LeufsTer10
ENST00000484087.6:c.665-737_665-736insTT	ENSP00000419481.2:n.665-737_665-736insTT
ENST00000700182.1:c.707-737_707-736insTT	ENSP00000514849.1:n.707-737_707-736insTT
ENST00000357654.9:c.3762_3763insTT MANE Select	ENSP00000350283.3:p.Asn1255LeufsTer10
ENST00000471181.7:c.3762_3763insTT	ENSP00000418960.2:p.Asn1255LeufsTer10
ENST00000644379.1:c.83_84insTT
ENST00000352993.7:c.671-737_671-736insTT	ENSP00000312236.5:n.671-737_671-736insTT
ENST00000354071.7:c.3762_3763insTT	ENSP00000326002.7:p.Asn1255LeufsTer10
ENST00000357654.7:c.3762_3763insTT	ENSP00000350283.3:p.Asn1255LeufsTer10
ENST00000461221.5:c.*3545_*3546insTT	ENSP00000418548.1:n.*3545_*3546insTT
ENST00000461574.1:c.56_57insTT
ENST00000468300.5:c.788-737_788-736insTT	ENSP00000417148.1:n.788-737_788-736insTT
ENST00000471181.6:c.3762_3763insTT	ENSP00000418960.2:p.Asn1255LeufsTer10
ENST00000478531.5:c.785-737_785-736insTT	ENSP00000420412.1:n.785-737_785-736insTT
ENST00000484087.5:c.410-737_410-736insTT	ENSP00000419481.1:n.410-737_410-736insTT
ENST00000487825.5:c.413-737_413-736insTT	ENSP00000418212.1:n.413-737_413-736insTT
ENST00000491747.6:c.788-737_788-736insTT	ENSP00000420705.2:n.788-737_788-736insTT
ENST00000493795.5:c.3621_3622insTT	ENSP00000418775.1:p.Asn1208LeufsTer10
ENST00000493919.5:c.647-737_647-736insTT	ENSP00000418819.1:n.647-737_647-736insTT
ENST00000586385.5:c.5-27818_5-27817insTT	ENSP00000465818.1:n.5-27818_5-27817insTT
ENST00000591534.5:c.-43-17248_-43-17247insTT	ENSP00000467329.1:n.-43-17248_-43-17247in...
ENST00000591849.5:c.-99+33502_-99+33503insTT	ENSP00000465347.1:n.-99+33502_-99+33503in...
NM_007294.3:c.3762_3763insTT , LRG_292t1:c.3762_3763insTT	NP_009225.1:p.Asn1255LeufsTer10
NM_007297.3:c.3621_3622insTT	NP_009228.2:p.Asn1208LeufsTer10
NM_007298.3:c.788-737_788-736insTT	NP_009229.2:n.788-737_788-736insTT
NM_007299.3:c.788-737_788-736insTT	NP_009230.2:n.788-737_788-736insTT
NM_007300.3:c.3762_3763insTT	NP_009231.2:p.Asn1255LeufsTer10
NR_027676.1:n.3898_3899insTT
NM_007294.4:c.3762_3763insTT MANE Select	NP_009225.1:p.Asn1255LeufsTer10
NM_007297.4:c.3621_3622insTT	NP_009228.2:p.Asn1208LeufsTer10
NM_007299.4:c.788-737_788-736insTT	NP_009230.2:n.788-737_788-736insTT
NM_007300.4:c.3762_3763insTT	NP_009231.2:p.Asn1255LeufsTer10
NR_027676.2:n.3939_3940insTT