Canonical Allele Identifier: CA10580543

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 232602
• ClinVar RCV Id: RCV000219345 ; RCV000661009
• dbSNP Id: rs80357864
• MyVariant Identifiers: chr17:g.41243614_41243617dupTGTT (hg19) ; chr17:g.41243613_41243614insTGTT (hg19) ; chr17:g.43091597_43091600dupTGTT (hg38) ; chr17:g.43091596_43091597insTGTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091600_43091603dup , CM000679.2:g.43091600_43091603dup	GRCh38
NC_000017.10:g.41243617_41243620dup , CM000679.1:g.41243617_41243620dup	GRCh37
NC_000017.9:g.38497143_38497146dup	NCBI36
NG_005905.2:g.126384_126387dup , LRG_292:g.126384_126387dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.3995_3998dup
ENST00000461574.2:c.3931_3934dup	ENSP00000417241.2:p.Thr1312LysfsTer19
ENST00000470026.6:c.3931_3934dup	ENSP00000419274.2:p.Thr1312LysfsTer19
ENST00000473961.6:c.3805_3808dup	ENSP00000420201.2:p.Thr1270LysfsTer19
ENST00000476777.6:c.3928_3931dup	ENSP00000417554.2:p.Thr1311LysfsTer19
ENST00000477152.6:c.3853_3856dup	ENSP00000419988.2:p.Thr1286LysfsTer19
ENST00000478531.6:c.785-568_785-565dup	ENSP00000420412.2:n.785-568_785-565dup
ENST00000489037.2:c.3853_3856dup	ENSP00000420781.2:p.Thr1286LysfsTer19
ENST00000493919.6:c.647-568_647-565dup	ENSP00000418819.2:n.647-568_647-565dup
ENST00000494123.6:c.3931_3934dup	ENSP00000419103.2:p.Thr1312LysfsTer19
ENST00000497488.2:c.3043_3046dup	ENSP00000418986.2:p.Thr1016LysfsTer19
ENST00000618469.2:c.3931_3934dup	ENSP00000478114.2:p.Thr1312LysfsTer19
ENST00000634433.2:c.3808_3811dup	ENSP00000489431.2:p.Thr1271LysfsTer19
ENST00000644379.2:c.3931_3934dup	ENSP00000496570.2:p.Thr1312LysfsTer19
ENST00000644555.2:c.647-568_647-565dup	ENSP00000494614.2:n.647-568_647-565dup
ENST00000652672.2:c.3790_3793dup	ENSP00000498906.2:p.Thr1265LysfsTer19
ENST00000484087.6:c.665-568_665-565dup	ENSP00000419481.2:n.665-568_665-565dup
ENST00000700182.1:c.707-568_707-565dup	ENSP00000514849.1:n.707-568_707-565dup
ENST00000357654.9:c.3931_3934dup MANE Select	ENSP00000350283.3:p.Thr1312LysfsTer19
ENST00000471181.7:c.3931_3934dup	ENSP00000418960.2:p.Thr1312LysfsTer19
ENST00000644379.1:c.252_255dup
ENST00000352993.7:c.671-568_671-565dup	ENSP00000312236.5:n.671-568_671-565dup
ENST00000354071.7:c.3931_3934dup	ENSP00000326002.7:p.Thr1312LysfsTer19
ENST00000357654.7:c.3931_3934dup	ENSP00000350283.3:p.Thr1312LysfsTer19
ENST00000461221.5:c.*3714_*3717dup	ENSP00000418548.1:n.*3714_*3717dup
ENST00000461574.1:c.225_228dup
ENST00000468300.5:c.788-568_788-565dup	ENSP00000417148.1:n.788-568_788-565dup
ENST00000471181.6:c.3931_3934dup	ENSP00000418960.2:p.Thr1312LysfsTer19
ENST00000478531.5:c.785-568_785-565dup	ENSP00000420412.1:n.785-568_785-565dup
ENST00000484087.5:c.410-568_410-565dup	ENSP00000419481.1:n.410-568_410-565dup
ENST00000487825.5:c.413-568_413-565dup	ENSP00000418212.1:n.413-568_413-565dup
ENST00000491747.6:c.788-568_788-565dup	ENSP00000420705.2:n.788-568_788-565dup
ENST00000493795.5:c.3790_3793dup	ENSP00000418775.1:p.Thr1265LysfsTer19
ENST00000493919.5:c.647-568_647-565dup	ENSP00000418819.1:n.647-568_647-565dup
ENST00000586385.5:c.5-27649_5-27646dup	ENSP00000465818.1:n.5-27649_5-27646dup
ENST00000591534.5:c.-43-17079_-43-17076dup	ENSP00000467329.1:n.-43-17079_-43-17076du...
ENST00000591849.5:c.-99+33671_-99+33674dup	ENSP00000465347.1:n.-99+33671_-99+33674du...
NM_007294.3:c.3931_3934dup , LRG_292t1:c.3931_3934dup	NP_009225.1:p.Thr1312LysfsTer19
NM_007297.3:c.3790_3793dup	NP_009228.2:p.Thr1265LysfsTer19
NM_007298.3:c.788-568_788-565dup	NP_009229.2:n.788-568_788-565dup
NM_007299.3:c.788-568_788-565dup	NP_009230.2:n.788-568_788-565dup
NM_007300.3:c.3931_3934dup	NP_009231.2:p.Thr1312LysfsTer19
NR_027676.1:n.4067_4070dup
NM_007294.4:c.3931_3934dup MANE Select	NP_009225.1:p.Thr1312LysfsTer19
NM_007297.4:c.3790_3793dup	NP_009228.2:p.Thr1265LysfsTer19
NM_007299.4:c.788-568_788-565dup	NP_009230.2:n.788-568_788-565dup
NM_007300.4:c.3931_3934dup	NP_009231.2:p.Thr1312LysfsTer19
NR_027676.2:n.4108_4111dup