Canonical Allele Identifier: CA001055

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 96902
• ClinVar RCV Id: RCV001268491
• dbSNP Id: rs431825387
• gnomAD v2: 17-41245967-CTT-C
• gnomAD v4: 17-43093950-CTT-C
• MyVariant Identifiers: chr17:g.41245968_41245969del (hg19) ; chr17:g.43093951_43093952del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093953_43093954del , CM000679.2:g.43093953_43093954del	GRCh38
NC_000017.10:g.41245970_41245971del , CM000679.1:g.41245970_41245971del	GRCh37
NC_000017.9:g.38499496_38499497del	NCBI36
NG_005905.2:g.124032_124033del , LRG_292:g.124032_124033del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.1643_1644del
ENST00000461574.2:c.1579_1580del	ENSP00000417241.2:p.Lys527AspfsTer3
ENST00000470026.6:c.1579_1580del	ENSP00000419274.2:p.Lys527AspfsTer3
ENST00000473961.6:c.1453_1454del	ENSP00000420201.2:p.Lys485AspfsTer3
ENST00000476777.6:c.1576_1577del	ENSP00000417554.2:p.Lys526AspfsTer3
ENST00000477152.6:c.1501_1502del	ENSP00000419988.2:p.Lys501AspfsTer3
ENST00000478531.6:c.784+792_784+793del	ENSP00000420412.2:n.784+792_784+793del
ENST00000489037.2:c.1501_1502del	ENSP00000420781.2:p.Lys501AspfsTer3
ENST00000493919.6:c.646+792_646+793del	ENSP00000418819.2:n.646+792_646+793del
ENST00000494123.6:c.1579_1580del	ENSP00000419103.2:p.Lys527AspfsTer3
ENST00000497488.2:c.691_692del	ENSP00000418986.2:p.Lys231AspfsTer3
ENST00000618469.2:c.1579_1580del	ENSP00000478114.2:p.Lys527AspfsTer3
ENST00000634433.2:c.1456_1457del	ENSP00000489431.2:p.Lys486AspfsTer3
ENST00000644379.2:c.1579_1580del	ENSP00000496570.2:p.Lys527AspfsTer3
ENST00000644555.2:c.646+792_646+793del	ENSP00000494614.2:n.646+792_646+793del
ENST00000652672.2:c.1438_1439del	ENSP00000498906.2:p.Lys480AspfsTer3
ENST00000484087.6:c.664+792_664+793del	ENSP00000419481.2:n.664+792_664+793del
ENST00000700182.1:c.706+792_706+793del	ENSP00000514849.1:n.706+792_706+793del
ENST00000357654.9:c.1579_1580del MANE Select	ENSP00000350283.3:p.Lys527AspfsTer3
ENST00000471181.7:c.1579_1580del	ENSP00000418960.2:p.Lys527AspfsTer3
ENST00000652672.1:c.1438_1439del	ENSP00000498906.1:p.Lys480AspfsTer3
ENST00000352993.7:c.670+1894_670+1895del	ENSP00000312236.5:n.670+1894_670+1895del
ENST00000354071.7:c.1579_1580del	ENSP00000326002.7:p.Lys527AspfsTer3
ENST00000357654.7:c.1579_1580del	ENSP00000350283.3:p.Lys527AspfsTer3
ENST00000412061.3:c.930_931del
ENST00000461221.5:c.*1362_*1363del	ENSP00000418548.1:n.*1362_*1363del
ENST00000468300.5:c.787+792_787+793del	ENSP00000417148.1:n.787+792_787+793del
ENST00000470026.5:c.1579_1580del	ENSP00000419274.1:p.Lys527AspfsTer3
ENST00000471181.6:c.1579_1580del	ENSP00000418960.2:p.Lys527AspfsTer3
ENST00000477152.5:c.1501_1502del	ENSP00000419988.1:p.Lys501AspfsTer3
ENST00000478531.5:c.784+792_784+793del	ENSP00000420412.1:n.784+792_784+793del
ENST00000484087.5:c.409+792_409+793del	ENSP00000419481.1:n.409+792_409+793del
ENST00000487825.5:c.412+792_412+793del	ENSP00000418212.1:n.412+792_412+793del
ENST00000491747.6:c.787+792_787+793del	ENSP00000420705.2:n.787+792_787+793del
ENST00000493795.5:c.1438_1439del	ENSP00000418775.1:p.Lys480AspfsTer3
ENST00000493919.5:c.646+792_646+793del	ENSP00000418819.1:n.646+792_646+793del
ENST00000586385.5:c.5-30001_5-30000del	ENSP00000465818.1:n.5-30001_5-30000del
ENST00000591534.5:c.-43-19431_-43-19430del	ENSP00000467329.1:n.-43-19431_-43-19430de...
ENST00000591849.5:c.-99+31319_-99+31320del	ENSP00000465347.1:n.-99+31319_-99+31320de...
ENST00000634433.1:c.1456_1457del	ENSP00000489431.1:p.Lys486AspfsTer3
NM_007294.3:c.1579_1580del , LRG_292t1:c.1579_1580del	NP_009225.1:p.Lys527AspfsTer3
NM_007297.3:c.1438_1439del	NP_009228.2:p.Lys480AspfsTer3
NM_007298.3:c.787+792_787+793del	NP_009229.2:n.787+792_787+793del
NM_007299.3:c.787+792_787+793del	NP_009230.2:n.787+792_787+793del
NM_007300.3:c.1579_1580del	NP_009231.2:p.Lys527AspfsTer3
NR_027676.1:n.1715_1716del
NM_007294.4:c.1579_1580del MANE Select	NP_009225.1:p.Lys527AspfsTer3
NM_007297.4:c.1438_1439del	NP_009228.2:p.Lys480AspfsTer3
NM_007299.4:c.787+792_787+793del	NP_009230.2:n.787+792_787+793del
NM_007300.4:c.1579_1580del	NP_009231.2:p.Lys527AspfsTer3
NR_027676.2:n.1756_1757del