Canonical Allele Identifier: CA002030

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 266333
• ClinVar RCV Id: RCV000257764
• dbSNP Id: rs80357967
• MyVariant Identifiers: chr17:g.41244448_41244461dupTTTCTCTAATGTTA (hg19) ; chr17:g.41244447_41244448insTTTCTCTAATGTTA (hg19) ; chr17:g.43092431_43092444dupTTTCTCTAATGTTA (hg38) ; chr17:g.43092430_43092431insTTTCTCTAATGTTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43092433_43092446dup , CM000679.2:g.43092433_43092446dup	GRCh38
NC_000017.10:g.41244450_41244463dup , CM000679.1:g.41244450_41244463dup	GRCh37
NC_000017.9:g.38497976_38497989dup	NCBI36
NG_005905.2:g.125540_125553dup , LRG_292:g.125540_125553dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3151_3164dup
ENST00000461574.2:c.3087_3100dup	ENSP00000417241.2:p.Asn1034IlefsTer19
ENST00000470026.6:c.3087_3100dup	ENSP00000419274.2:p.Asn1034IlefsTer19
ENST00000473961.6:c.2961_2974dup	ENSP00000420201.2:p.Asn992IlefsTer19
ENST00000476777.6:c.3084_3097dup	ENSP00000417554.2:p.Asn1033IlefsTer19
ENST00000477152.6:c.3009_3022dup	ENSP00000419988.2:p.Asn1008IlefsTer19
ENST00000478531.6:c.785-1412_785-1399dup	ENSP00000420412.2:n.785-1412_785-1399dup
ENST00000489037.2:c.3009_3022dup	ENSP00000420781.2:p.Asn1008IlefsTer19
ENST00000493919.6:c.647-1412_647-1399dup	ENSP00000418819.2:n.647-1412_647-1399dup
ENST00000494123.6:c.3087_3100dup	ENSP00000419103.2:p.Asn1034IlefsTer19
ENST00000497488.2:c.2199_2212dup	ENSP00000418986.2:p.Asn738IlefsTer19
ENST00000618469.2:c.3087_3100dup	ENSP00000478114.2:p.Asn1034IlefsTer19
ENST00000634433.2:c.2964_2977dup	ENSP00000489431.2:p.Asn993IlefsTer19
ENST00000644379.2:c.3087_3100dup	ENSP00000496570.2:p.Asn1034IlefsTer19
ENST00000644555.2:c.647-1412_647-1399dup	ENSP00000494614.2:n.647-1412_647-1399dup
ENST00000652672.2:c.2946_2959dup	ENSP00000498906.2:p.Asn987IlefsTer19
ENST00000484087.6:c.665-1412_665-1399dup	ENSP00000419481.2:n.665-1412_665-1399dup
ENST00000700182.1:c.707-1412_707-1399dup	ENSP00000514849.1:n.707-1412_707-1399dup
ENST00000357654.9:c.3087_3100dup MANE Select	ENSP00000350283.3:p.Asn1034IlefsTer19
ENST00000471181.7:c.3087_3100dup	ENSP00000418960.2:p.Asn1034IlefsTer19
ENST00000352993.7:c.671-1412_671-1399dup	ENSP00000312236.5:n.671-1412_671-1399dup
ENST00000354071.7:c.3087_3100dup	ENSP00000326002.7:p.Asn1034IlefsTer19
ENST00000357654.7:c.3087_3100dup	ENSP00000350283.3:p.Asn1034IlefsTer19
ENST00000461221.5:c.*2870_*2883dup	ENSP00000418548.1:n.*2870_*2883dup
ENST00000468300.5:c.788-1412_788-1399dup	ENSP00000417148.1:n.788-1412_788-1399dup
ENST00000471181.6:c.3087_3100dup	ENSP00000418960.2:p.Asn1034IlefsTer19
ENST00000478531.5:c.785-1412_785-1399dup	ENSP00000420412.1:n.785-1412_785-1399dup
ENST00000484087.5:c.410-1412_410-1399dup	ENSP00000419481.1:n.410-1412_410-1399dup
ENST00000487825.5:c.413-1412_413-1399dup	ENSP00000418212.1:n.413-1412_413-1399dup
ENST00000491747.6:c.788-1412_788-1399dup	ENSP00000420705.2:n.788-1412_788-1399dup
ENST00000493795.5:c.2946_2959dup	ENSP00000418775.1:p.Asn987IlefsTer19
ENST00000493919.5:c.647-1412_647-1399dup	ENSP00000418819.1:n.647-1412_647-1399dup
ENST00000586385.5:c.5-28493_5-28480dup	ENSP00000465818.1:n.5-28493_5-28480dup
ENST00000591534.5:c.-43-17923_-43-17910dup	ENSP00000467329.1:n.-43-17923_-43-17910dup
ENST00000591849.5:c.-99+32827_-99+32840dup	ENSP00000465347.1:n.-99+32827_-99+32840dup
NM_007294.3:c.3087_3100dup , LRG_292t1:c.3087_3100dup	NP_009225.1:p.Asn1034IlefsTer19
NM_007297.3:c.2946_2959dup	NP_009228.2:p.Asn987IlefsTer19
NM_007298.3:c.788-1412_788-1399dup	NP_009229.2:n.788-1412_788-1399dup
NM_007299.3:c.788-1412_788-1399dup	NP_009230.2:n.788-1412_788-1399dup
NM_007300.3:c.3087_3100dup	NP_009231.2:p.Asn1034IlefsTer19
NR_027676.1:n.3223_3236dup
NM_007294.4:c.3087_3100dup MANE Select	NP_009225.1:p.Asn1034IlefsTer19
NM_007297.4:c.2946_2959dup	NP_009228.2:p.Asn987IlefsTer19
NM_007299.4:c.788-1412_788-1399dup	NP_009230.2:n.788-1412_788-1399dup
NM_007300.4:c.3087_3100dup	NP_009231.2:p.Asn1034IlefsTer19
NR_027676.2:n.3264_3277dup