Canonical Allele Identifier: CA000877

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 37401
• ClinVar RCV Id: RCV000111592 ; RCV000697117 ; RCV002381276
• dbSNP Id: rs80357597
• MyVariant Identifiers: chr17:g.41246207_41246208insC (hg19) ; chr17:g.43094190_43094191insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094190_43094191insC , CM000679.2:g.43094190_43094191insC	GRCh38
NC_000017.10:g.41246207_41246208insC , CM000679.1:g.41246207_41246208insC	GRCh37
NC_000017.9:g.38499733_38499734insC	NCBI36
NG_005905.2:g.123793_123794insG , LRG_292:g.123793_123794insG

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.1404_1405insG
ENST00000461574.2:c.1340_1341insG	ENSP00000417241.2:p.His448SerfsTer8
ENST00000470026.6:c.1340_1341insG	ENSP00000419274.2:p.His448SerfsTer8
ENST00000473961.6:c.1214_1215insG	ENSP00000420201.2:p.His406SerfsTer8
ENST00000476777.6:c.1337_1338insG	ENSP00000417554.2:p.His447SerfsTer8
ENST00000477152.6:c.1262_1263insG	ENSP00000419988.2:p.His422SerfsTer8
ENST00000478531.6:c.784+553_784+554insG	ENSP00000420412.2:n.784+553_784+554insG
ENST00000489037.2:c.1262_1263insG	ENSP00000420781.2:p.His422SerfsTer8
ENST00000493919.6:c.646+553_646+554insG	ENSP00000418819.2:n.646+553_646+554insG
ENST00000494123.6:c.1340_1341insG	ENSP00000419103.2:p.His448SerfsTer8
ENST00000497488.2:c.452_453insG	ENSP00000418986.2:p.His152SerfsTer8
ENST00000618469.2:c.1340_1341insG	ENSP00000478114.2:p.His448SerfsTer8
ENST00000634433.2:c.1217_1218insG	ENSP00000489431.2:p.His407SerfsTer8
ENST00000644379.2:c.1340_1341insG	ENSP00000496570.2:p.His448SerfsTer8
ENST00000644555.2:c.646+553_646+554insG	ENSP00000494614.2:n.646+553_646+554insG
ENST00000652672.2:c.1199_1200insG	ENSP00000498906.2:p.His401SerfsTer8
ENST00000484087.6:c.664+553_664+554insG	ENSP00000419481.2:n.664+553_664+554insG
ENST00000700182.1:c.706+553_706+554insG	ENSP00000514849.1:n.706+553_706+554insG
ENST00000700183.1:c.*1348_*1349insG	ENSP00000514850.1:n.*1348_*1349insG
ENST00000357654.9:c.1340_1341insG MANE Select	ENSP00000350283.3:p.His448SerfsTer8
ENST00000471181.7:c.1340_1341insG	ENSP00000418960.2:p.His448SerfsTer8
ENST00000652672.1:c.1199_1200insG	ENSP00000498906.1:p.His401SerfsTer8
ENST00000352993.7:c.670+1655_670+1656insG	ENSP00000312236.5:n.670+1655_670+1656insG...
ENST00000354071.7:c.1340_1341insG	ENSP00000326002.7:p.His448SerfsTer8
ENST00000357654.7:c.1340_1341insG	ENSP00000350283.3:p.His448SerfsTer8
ENST00000412061.3:c.691_692insG
ENST00000461221.5:c.*1123_*1124insG	ENSP00000418548.1:n.*1123_*1124insG
ENST00000468300.5:c.787+553_787+554insG	ENSP00000417148.1:n.787+553_787+554insG
ENST00000470026.5:c.1340_1341insG	ENSP00000419274.1:p.His448SerfsTer8
ENST00000471181.6:c.1340_1341insG	ENSP00000418960.2:p.His448SerfsTer8
ENST00000473961.5:c.937_938insG
ENST00000477152.5:c.1262_1263insG	ENSP00000419988.1:p.His422SerfsTer8
ENST00000478531.5:c.784+553_784+554insG	ENSP00000420412.1:n.784+553_784+554insG
ENST00000484087.5:c.409+553_409+554insG	ENSP00000419481.1:n.409+553_409+554insG
ENST00000487825.5:c.412+553_412+554insG	ENSP00000418212.1:n.412+553_412+554insG
ENST00000491747.6:c.787+553_787+554insG	ENSP00000420705.2:n.787+553_787+554insG
ENST00000492859.5:c.*1276_*1277insG	ENSP00000420253.1:n.*1276_*1277insG
ENST00000493795.5:c.1199_1200insG	ENSP00000418775.1:p.His401SerfsTer8
ENST00000493919.5:c.646+553_646+554insG	ENSP00000418819.1:n.646+553_646+554insG
ENST00000494123.5:c.1340_1341insG	ENSP00000419103.1:p.His448SerfsTer8
ENST00000497488.1:c.452_453insG	ENSP00000418986.1:p.His152SerfsTer8
ENST00000586385.5:c.5-30240_5-30239insG	ENSP00000465818.1:n.5-30240_5-30239insG
ENST00000591534.5:c.-43-19670_-43-19669insG	ENSP00000467329.1:n.-43-19670_-43-19669in...
ENST00000591849.5:c.-99+31080_-99+31081insG	ENSP00000465347.1:n.-99+31080_-99+31081in...
ENST00000634433.1:c.1217_1218insG	ENSP00000489431.1:p.His407SerfsTer8
NM_007294.3:c.1340_1341insG , LRG_292t1:c.1340_1341insG	NP_009225.1:p.His448SerfsTer8
NM_007297.3:c.1199_1200insG	NP_009228.2:p.His401SerfsTer8
NM_007298.3:c.787+553_787+554insG	NP_009229.2:n.787+553_787+554insG
NM_007299.3:c.787+553_787+554insG	NP_009230.2:n.787+553_787+554insG
NM_007300.3:c.1340_1341insG	NP_009231.2:p.His448SerfsTer8
NR_027676.1:n.1476_1477insG
NM_007294.4:c.1340_1341insG MANE Select	NP_009225.1:p.His448SerfsTer8
NM_007297.4:c.1199_1200insG	NP_009228.2:p.His401SerfsTer8
NM_007299.4:c.787+553_787+554insG	NP_009230.2:n.787+553_787+554insG
NM_007300.4:c.1340_1341insG	NP_009231.2:p.His448SerfsTer8
NR_027676.2:n.1517_1518insG