Canonical Allele Identifier: CA10584568

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 246230
• ClinVar RCV Id: RCV000236404 ; RCV000775242 ; RCV002518451
• dbSNP Id: rs879254165
• gnomAD v2: 17-41245524-GCAGGTT-G
• gnomAD v4: 17-43093507-GCAGGTT-G
• MyVariant Identifiers: chr17:g.41245525_41245530del (hg19) ; chr17:g.43093508_43093513del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093509_43093514del , CM000679.2:g.43093509_43093514del	GRCh38
NC_000017.10:g.41245526_41245531del , CM000679.1:g.41245526_41245531del	GRCh37
NC_000017.9:g.38499052_38499057del	NCBI36
NG_005905.2:g.124471_124476del , LRG_292:g.124471_124476del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.2082_2087del
ENST00000461574.2:c.2018_2023del	ENSP00000417241.2:p.Glu673_Pro674del
ENST00000470026.6:c.2018_2023del	ENSP00000419274.2:p.Glu673_Pro674del
ENST00000473961.6:c.1892_1897del	ENSP00000420201.2:p.Glu631_Pro632del
ENST00000476777.6:c.2015_2020del	ENSP00000417554.2:p.Glu672_Pro673del
ENST00000477152.6:c.1940_1945del	ENSP00000419988.2:p.Glu647_Pro648del
ENST00000478531.6:c.784+1231_784+1236del	ENSP00000420412.2:n.784+1231_784+1236del
ENST00000489037.2:c.1940_1945del	ENSP00000420781.2:p.Glu647_Pro648del
ENST00000493919.6:c.646+1231_646+1236del	ENSP00000418819.2:n.646+1231_646+1236del
ENST00000494123.6:c.2018_2023del	ENSP00000419103.2:p.Glu673_Pro674del
ENST00000497488.2:c.1130_1135del	ENSP00000418986.2:p.Glu377_Pro378del
ENST00000618469.2:c.2018_2023del	ENSP00000478114.2:p.Glu673_Pro674del
ENST00000634433.2:c.1895_1900del	ENSP00000489431.2:p.Glu632_Pro633del
ENST00000644379.2:c.2018_2023del	ENSP00000496570.2:p.Glu673_Pro674del
ENST00000644555.2:c.646+1231_646+1236del	ENSP00000494614.2:n.646+1231_646+1236del
ENST00000652672.2:c.1877_1882del	ENSP00000498906.2:p.Glu626_Pro627del
ENST00000484087.6:c.664+1231_664+1236del	ENSP00000419481.2:n.664+1231_664+1236del
ENST00000700182.1:c.706+1231_706+1236del	ENSP00000514849.1:n.706+1231_706+1236del
ENST00000357654.9:c.2018_2023del MANE Select	ENSP00000350283.3:p.Glu673_Pro674del
ENST00000471181.7:c.2018_2023del	ENSP00000418960.2:p.Glu673_Pro674del
ENST00000352993.7:c.670+2333_670+2338del	ENSP00000312236.5:n.670+2333_670+2338del
ENST00000354071.7:c.2018_2023del	ENSP00000326002.7:p.Glu673_Pro674del
ENST00000357654.7:c.2018_2023del	ENSP00000350283.3:p.Glu673_Pro674del
ENST00000461221.5:c.*1801_*1806del	ENSP00000418548.1:n.*1801_*1806del
ENST00000468300.5:c.787+1231_787+1236del	ENSP00000417148.1:n.787+1231_787+1236del
ENST00000471181.6:c.2018_2023del	ENSP00000418960.2:p.Glu673_Pro674del
ENST00000478531.5:c.784+1231_784+1236del	ENSP00000420412.1:n.784+1231_784+1236del
ENST00000484087.5:c.409+1231_409+1236del	ENSP00000419481.1:n.409+1231_409+1236del
ENST00000487825.5:c.412+1231_412+1236del	ENSP00000418212.1:n.412+1231_412+1236del
ENST00000491747.6:c.787+1231_787+1236del	ENSP00000420705.2:n.787+1231_787+1236del
ENST00000493795.5:c.1877_1882del	ENSP00000418775.1:p.Glu626_Pro627del
ENST00000493919.5:c.646+1231_646+1236del	ENSP00000418819.1:n.646+1231_646+1236del
ENST00000586385.5:c.5-29562_5-29557del	ENSP00000465818.1:n.5-29562_5-29557del
ENST00000591534.5:c.-43-18992_-43-18987del	ENSP00000467329.1:n.-43-18992_-43-18987del
ENST00000591849.5:c.-99+31758_-99+31763del	ENSP00000465347.1:n.-99+31758_-99+31763del
ENST00000634433.1:c.1895_1900del	ENSP00000489431.1:p.Glu632_Pro633del
NM_007294.3:c.2018_2023del , LRG_292t1:c.2018_2023del	NP_009225.1:p.Glu673_Pro674del
NM_007297.3:c.1877_1882del	NP_009228.2:p.Glu626_Pro627del
NM_007298.3:c.787+1231_787+1236del	NP_009229.2:n.787+1231_787+1236del
NM_007299.3:c.787+1231_787+1236del	NP_009230.2:n.787+1231_787+1236del
NM_007300.3:c.2018_2023del	NP_009231.2:p.Glu673_Pro674del
NR_027676.1:n.2154_2159del
NM_007294.4:c.2018_2023del MANE Select	NP_009225.1:p.Glu673_Pro674del
NM_007297.4:c.1877_1882del	NP_009228.2:p.Glu626_Pro627del
NM_007299.4:c.787+1231_787+1236del	NP_009230.2:n.787+1231_787+1236del
NM_007300.4:c.2018_2023del	NP_009231.2:p.Glu673_Pro674del
NR_027676.2:n.2195_2200del