Canonical Allele Identifier: CA645373186

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 431238
• ClinVar RCV Id: RCV000496740 ; RCV000661035
• dbSNP Id: rs1135401856
• MyVariant Identifiers: chr17:g.41244489_41244492del (hg19) ; chr17:g.43092472_43092475del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43092472_43092475del , CM000679.2:g.43092472_43092475del	GRCh38
NC_000017.10:g.41244489_41244492del , CM000679.1:g.41244489_41244492del	GRCh37
NC_000017.9:g.38498015_38498018del	NCBI36
NG_005905.2:g.125509_125512del , LRG_292:g.125509_125512del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3120_3123del
ENST00000461574.2:c.3056_3059del	ENSP00000417241.2:p.Ile1019LysfsTer4
ENST00000470026.6:c.3056_3059del	ENSP00000419274.2:p.Ile1019LysfsTer4
ENST00000473961.6:c.2930_2933del	ENSP00000420201.2:p.Ile977LysfsTer4
ENST00000476777.6:c.3053_3056del	ENSP00000417554.2:p.Ile1018LysfsTer4
ENST00000477152.6:c.2978_2981del	ENSP00000419988.2:p.Ile993LysfsTer4
ENST00000478531.6:c.785-1443_785-1440del	ENSP00000420412.2:n.785-1443_785-1440del
ENST00000489037.2:c.2978_2981del	ENSP00000420781.2:p.Ile993LysfsTer4
ENST00000493919.6:c.647-1443_647-1440del	ENSP00000418819.2:n.647-1443_647-1440del
ENST00000494123.6:c.3056_3059del	ENSP00000419103.2:p.Ile1019LysfsTer4
ENST00000497488.2:c.2168_2171del	ENSP00000418986.2:p.Ile723LysfsTer4
ENST00000618469.2:c.3056_3059del	ENSP00000478114.2:p.Ile1019LysfsTer4
ENST00000634433.2:c.2933_2936del	ENSP00000489431.2:p.Ile978LysfsTer4
ENST00000644379.2:c.3056_3059del	ENSP00000496570.2:p.Ile1019LysfsTer4
ENST00000644555.2:c.647-1443_647-1440del	ENSP00000494614.2:n.647-1443_647-1440del
ENST00000652672.2:c.2915_2918del	ENSP00000498906.2:p.Ile972LysfsTer4
ENST00000484087.6:c.665-1443_665-1440del	ENSP00000419481.2:n.665-1443_665-1440del
ENST00000700182.1:c.707-1443_707-1440del	ENSP00000514849.1:n.707-1443_707-1440del
ENST00000357654.9:c.3056_3059del MANE Select	ENSP00000350283.3:p.Ile1019LysfsTer4
ENST00000471181.7:c.3056_3059del	ENSP00000418960.2:p.Ile1019LysfsTer4
ENST00000352993.7:c.671-1443_671-1440del	ENSP00000312236.5:n.671-1443_671-1440del
ENST00000354071.7:c.3056_3059del	ENSP00000326002.7:p.Ile1019LysfsTer4
ENST00000357654.7:c.3056_3059del	ENSP00000350283.3:p.Ile1019LysfsTer4
ENST00000461221.5:c.*2839_*2842del	ENSP00000418548.1:n.*2839_*2842del
ENST00000468300.5:c.788-1443_788-1440del	ENSP00000417148.1:n.788-1443_788-1440del
ENST00000471181.6:c.3056_3059del	ENSP00000418960.2:p.Ile1019LysfsTer4
ENST00000478531.5:c.785-1443_785-1440del	ENSP00000420412.1:n.785-1443_785-1440del
ENST00000484087.5:c.410-1443_410-1440del	ENSP00000419481.1:n.410-1443_410-1440del
ENST00000487825.5:c.413-1443_413-1440del	ENSP00000418212.1:n.413-1443_413-1440del
ENST00000491747.6:c.788-1443_788-1440del	ENSP00000420705.2:n.788-1443_788-1440del
ENST00000493795.5:c.2915_2918del	ENSP00000418775.1:p.Ile972LysfsTer4
ENST00000493919.5:c.647-1443_647-1440del	ENSP00000418819.1:n.647-1443_647-1440del
ENST00000586385.5:c.5-28524_5-28521del	ENSP00000465818.1:n.5-28524_5-28521del
ENST00000591534.5:c.-43-17954_-43-17951del	ENSP00000467329.1:n.-43-17954_-43-17951del
ENST00000591849.5:c.-99+32796_-99+32799del	ENSP00000465347.1:n.-99+32796_-99+32799del
NM_007294.3:c.3056_3059del , LRG_292t1:c.3056_3059del	NP_009225.1:p.Ile1019LysfsTer4
NM_007297.3:c.2915_2918del	NP_009228.2:p.Ile972LysfsTer4
NM_007298.3:c.788-1443_788-1440del	NP_009229.2:n.788-1443_788-1440del
NM_007299.3:c.788-1443_788-1440del	NP_009230.2:n.788-1443_788-1440del
NM_007300.3:c.3056_3059del	NP_009231.2:p.Ile1019LysfsTer4
NR_027676.1:n.3192_3195del
NM_007294.4:c.3056_3059del MANE Select	NP_009225.1:p.Ile1019LysfsTer4
NM_007297.4:c.2915_2918del	NP_009228.2:p.Ile972LysfsTer4
NM_007299.4:c.788-1443_788-1440del	NP_009230.2:n.788-1443_788-1440del
NM_007300.4:c.3056_3059del	NP_009231.2:p.Ile1019LysfsTer4
NR_027676.2:n.3233_3236del