Canonical Allele Identifier: CA002007

Gene: BRCA1

Linked Data

• dbSNP Id: rs80357547
• MyVariant Identifiers: chr17:g.41244494_41244495insTCTCA (hg19) ; chr17:g.43092477_43092478insTCTCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43092478_43092479insCTCAT , CM000679.2:g.43092478_43092479insCTCAT	GRCh38
NC_000017.10:g.41244495_41244496insCTCAT , CM000679.1:g.41244495_41244496insCTCAT	GRCh37
NC_000017.9:g.38498021_38498022insCTCAT	NCBI36
NG_005905.2:g.125506_125507insTGAGA , LRG_292:g.125506_125507insTGAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3117_3118insTGAGA
ENST00000461574.2:c.3053_3054insTGAGA	ENSP00000417241.2:p.Ile1019GlufsTer7
ENST00000470026.6:c.3053_3054insTGAGA	ENSP00000419274.2:p.Ile1019GlufsTer7
ENST00000473961.6:c.2927_2928insTGAGA	ENSP00000420201.2:p.Ile977GlufsTer7
ENST00000476777.6:c.3050_3051insTGAGA	ENSP00000417554.2:p.Ile1018GlufsTer7
ENST00000477152.6:c.2975_2976insTGAGA	ENSP00000419988.2:p.Ile993GlufsTer7
ENST00000478531.6:c.785-1446_785-1445insTGAGA	ENSP00000420412.2:n.785-1446_785-1445insTGAGA
ENST00000489037.2:c.2975_2976insTGAGA	ENSP00000420781.2:p.Ile993GlufsTer7
ENST00000493919.6:c.647-1446_647-1445insTGAGA	ENSP00000418819.2:n.647-1446_647-1445insTGAGA
ENST00000494123.6:c.3053_3054insTGAGA	ENSP00000419103.2:p.Ile1019GlufsTer7
ENST00000497488.2:c.2165_2166insTGAGA	ENSP00000418986.2:p.Ile723GlufsTer7
ENST00000618469.2:c.3053_3054insTGAGA	ENSP00000478114.2:p.Ile1019GlufsTer7
ENST00000634433.2:c.2930_2931insTGAGA	ENSP00000489431.2:p.Ile978GlufsTer7
ENST00000644379.2:c.3053_3054insTGAGA	ENSP00000496570.2:p.Ile1019GlufsTer7
ENST00000644555.2:c.647-1446_647-1445insTGAGA	ENSP00000494614.2:n.647-1446_647-1445insTGAGA
ENST00000652672.2:c.2912_2913insTGAGA	ENSP00000498906.2:p.Ile972GlufsTer7
ENST00000484087.6:c.665-1446_665-1445insTGAGA	ENSP00000419481.2:n.665-1446_665-1445insTGAGA
ENST00000700182.1:c.707-1446_707-1445insTGAGA	ENSP00000514849.1:n.707-1446_707-1445insTGAGA
ENST00000357654.9:c.3053_3054insTGAGA MANE Select	ENSP00000350283.3:p.Ile1019GlufsTer7
ENST00000471181.7:c.3053_3054insTGAGA	ENSP00000418960.2:p.Ile1019GlufsTer7
ENST00000352993.7:c.671-1446_671-1445insTGAGA	ENSP00000312236.5:n.671-1446_671-1445insTGAGA
ENST00000354071.7:c.3053_3054insTGAGA	ENSP00000326002.7:p.Ile1019GlufsTer7
ENST00000357654.7:c.3053_3054insTGAGA	ENSP00000350283.3:p.Ile1019GlufsTer7
ENST00000461221.5:c.*2836_*2837insTGAGA	ENSP00000418548.1:n.*2836_*2837insTGAGA
ENST00000468300.5:c.788-1446_788-1445insTGAGA	ENSP00000417148.1:n.788-1446_788-1445insTGAGA
ENST00000471181.6:c.3053_3054insTGAGA	ENSP00000418960.2:p.Ile1019GlufsTer7
ENST00000478531.5:c.785-1446_785-1445insTGAGA	ENSP00000420412.1:n.785-1446_785-1445insTGAGA
ENST00000484087.5:c.410-1446_410-1445insTGAGA	ENSP00000419481.1:n.410-1446_410-1445insTGAGA
ENST00000487825.5:c.413-1446_413-1445insTGAGA	ENSP00000418212.1:n.413-1446_413-1445insTGAGA
ENST00000491747.6:c.788-1446_788-1445insTGAGA	ENSP00000420705.2:n.788-1446_788-1445insTGAGA
ENST00000493795.5:c.2912_2913insTGAGA	ENSP00000418775.1:p.Ile972GlufsTer7
ENST00000493919.5:c.647-1446_647-1445insTGAGA	ENSP00000418819.1:n.647-1446_647-1445insTGAGA
ENST00000586385.5:c.5-28527_5-28526insTGAGA	ENSP00000465818.1:n.5-28527_5-28526insTGAGA
ENST00000591534.5:c.-43-17957_-43-17956insTGAGA	ENSP00000467329.1:n.-43-17957_-43-17956insTGAGA
ENST00000591849.5:c.-99+32793_-99+32794insTGAGA	ENSP00000465347.1:n.-99+32793_-99+32794insTGAGA
NM_007294.3:c.3053_3054insTGAGA , LRG_292t1:c.3053_3054insTGAGA	NP_009225.1:p.Ile1019GlufsTer7
NM_007297.3:c.2912_2913insTGAGA	NP_009228.2:p.Ile972GlufsTer7
NM_007298.3:c.788-1446_788-1445insTGAGA	NP_009229.2:n.788-1446_788-1445insTGAGA
NM_007299.3:c.788-1446_788-1445insTGAGA	NP_009230.2:n.788-1446_788-1445insTGAGA
NM_007300.3:c.3053_3054insTGAGA	NP_009231.2:p.Ile1019GlufsTer7
NR_027676.1:n.3189_3190insTGAGA
NM_007294.4:c.3053_3054insTGAGA MANE Select	NP_009225.1:p.Ile1019GlufsTer7
NM_007297.4:c.2912_2913insTGAGA	NP_009228.2:p.Ile972GlufsTer7
NM_007299.4:c.788-1446_788-1445insTGAGA	NP_009230.2:n.788-1446_788-1445insTGAGA
NM_007300.4:c.3053_3054insTGAGA	NP_009231.2:p.Ile1019GlufsTer7
NR_027676.2:n.3230_3231insTGAGA