Canonical Allele Identifier: CA658824538

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 548183
• ClinVar RCV Id: RCV000660971
• dbSNP Id: rs1555592500
• MyVariant Identifiers: chr17:g.41246445_41246446insG (hg19) ; chr17:g.43094428_43094429insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094428_43094429insG , CM000679.2:g.43094428_43094429insG	GRCh38
NC_000017.10:g.41246445_41246446insG , CM000679.1:g.41246445_41246446insG	GRCh37
NC_000017.9:g.38499971_38499972insG	NCBI36
NG_005905.2:g.123555_123556insC , LRG_292:g.123555_123556insC

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.1166_1167insC
ENST00000461574.2:c.1102_1103insC	ENSP00000417241.2:p.Glu368AlafsTer10
ENST00000470026.6:c.1102_1103insC	ENSP00000419274.2:p.Glu368AlafsTer10
ENST00000473961.6:c.976_977insC	ENSP00000420201.2:p.Glu326AlafsTer10
ENST00000476777.6:c.1099_1100insC	ENSP00000417554.2:p.Glu367AlafsTer10
ENST00000477152.6:c.1024_1025insC	ENSP00000419988.2:p.Glu342AlafsTer10
ENST00000478531.6:c.784+315_784+316insC	ENSP00000420412.2:n.784+315_784+316insC
ENST00000489037.2:c.1024_1025insC	ENSP00000420781.2:p.Glu342AlafsTer10
ENST00000493919.6:c.646+315_646+316insC	ENSP00000418819.2:n.646+315_646+316insC
ENST00000494123.6:c.1102_1103insC	ENSP00000419103.2:p.Glu368AlafsTer10
ENST00000497488.2:c.214_215insC	ENSP00000418986.2:p.Glu72AlafsTer10
ENST00000618469.2:c.1102_1103insC	ENSP00000478114.2:p.Glu368AlafsTer10
ENST00000634433.2:c.979_980insC	ENSP00000489431.2:p.Glu327AlafsTer10
ENST00000644379.2:c.1102_1103insC	ENSP00000496570.2:p.Glu368AlafsTer10
ENST00000644555.2:c.646+315_646+316insC	ENSP00000494614.2:n.646+315_646+316insC
ENST00000652672.2:c.961_962insC	ENSP00000498906.2:p.Glu321AlafsTer10
ENST00000484087.6:c.664+315_664+316insC	ENSP00000419481.2:n.664+315_664+316insC
ENST00000700182.1:c.706+315_706+316insC	ENSP00000514849.1:n.706+315_706+316insC
ENST00000700183.1:c.*1110_*1111insC	ENSP00000514850.1:n.*1110_*1111insC
ENST00000357654.9:c.1102_1103insC MANE Select	ENSP00000350283.3:p.Glu368AlafsTer10
ENST00000471181.7:c.1102_1103insC	ENSP00000418960.2:p.Glu368AlafsTer10
ENST00000652672.1:c.961_962insC	ENSP00000498906.1:p.Glu321AlafsTer10
ENST00000352993.7:c.670+1417_670+1418insC	ENSP00000312236.5:n.670+1417_670+1418insC...
ENST00000354071.7:c.1102_1103insC	ENSP00000326002.7:p.Glu368AlafsTer10
ENST00000357654.7:c.1102_1103insC	ENSP00000350283.3:p.Glu368AlafsTer10
ENST00000412061.3:c.453_454insC
ENST00000461221.5:c.*885_*886insC	ENSP00000418548.1:n.*885_*886insC
ENST00000468300.5:c.787+315_787+316insC	ENSP00000417148.1:n.787+315_787+316insC
ENST00000470026.5:c.1102_1103insC	ENSP00000419274.1:p.Glu368AlafsTer10
ENST00000471181.6:c.1102_1103insC	ENSP00000418960.2:p.Glu368AlafsTer10
ENST00000473961.5:c.699_700insC
ENST00000477152.5:c.1024_1025insC	ENSP00000419988.1:p.Glu342AlafsTer10
ENST00000478531.5:c.784+315_784+316insC	ENSP00000420412.1:n.784+315_784+316insC
ENST00000484087.5:c.409+315_409+316insC	ENSP00000419481.1:n.409+315_409+316insC
ENST00000487825.5:c.412+315_412+316insC	ENSP00000418212.1:n.412+315_412+316insC
ENST00000491747.6:c.787+315_787+316insC	ENSP00000420705.2:n.787+315_787+316insC
ENST00000492859.5:c.*1038_*1039insC	ENSP00000420253.1:n.*1038_*1039insC
ENST00000493795.5:c.961_962insC	ENSP00000418775.1:p.Glu321AlafsTer10
ENST00000493919.5:c.646+315_646+316insC	ENSP00000418819.1:n.646+315_646+316insC
ENST00000494123.5:c.1102_1103insC	ENSP00000419103.1:p.Glu368AlafsTer10
ENST00000497488.1:c.214_215insC	ENSP00000418986.1:p.Glu72AlafsTer10
ENST00000586385.5:c.5-30478_5-30477insC	ENSP00000465818.1:n.5-30478_5-30477insC
ENST00000591534.5:c.-43-19908_-43-19907insC	ENSP00000467329.1:n.-43-19908_-43-19907in...
ENST00000591849.5:c.-99+30842_-99+30843insC	ENSP00000465347.1:n.-99+30842_-99+30843in...
ENST00000634433.1:c.979_980insC	ENSP00000489431.1:p.Glu327AlafsTer10
NM_007294.3:c.1102_1103insC , LRG_292t1:c.1102_1103insC	NP_009225.1:p.Glu368AlafsTer10
NM_007297.3:c.961_962insC	NP_009228.2:p.Glu321AlafsTer10
NM_007298.3:c.787+315_787+316insC	NP_009229.2:n.787+315_787+316insC
NM_007299.3:c.787+315_787+316insC	NP_009230.2:n.787+315_787+316insC
NM_007300.3:c.1102_1103insC	NP_009231.2:p.Glu368AlafsTer10
NR_027676.1:n.1238_1239insC
NM_007294.4:c.1102_1103insC MANE Select	NP_009225.1:p.Glu368AlafsTer10
NM_007297.4:c.961_962insC	NP_009228.2:p.Glu321AlafsTer10
NM_007299.4:c.787+315_787+316insC	NP_009230.2:n.787+315_787+316insC
NM_007300.4:c.1102_1103insC	NP_009231.2:p.Glu368AlafsTer10
NR_027676.2:n.1279_1280insC