Canonical Allele Identifier: CA003998

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 188407
• ClinVar RCV Id: RCV000168490 ; RCV000257897
• dbSNP Id: rs786204262
• MyVariant Identifiers: chr17:g.41246560_41246564del (hg19) ; chr17:g.43094543_43094547del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094546_43094550del , CM000679.2:g.43094546_43094550del	GRCh38
NC_000017.10:g.41246563_41246567del , CM000679.1:g.41246563_41246567del	GRCh37
NC_000017.9:g.38500089_38500093del	NCBI36
NG_005905.2:g.123437_123441del , LRG_292:g.123437_123441del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.1048_1052del
ENST00000461574.2:c.984_988del	ENSP00000417241.2:p.Cys328Ter
ENST00000470026.6:c.984_988del	ENSP00000419274.2:p.Cys328Ter
ENST00000473961.6:c.858_862del	ENSP00000420201.2:p.Cys286Ter
ENST00000476777.6:c.981_985del	ENSP00000417554.2:p.Cys327Ter
ENST00000477152.6:c.906_910del	ENSP00000419988.2:p.Cys302Ter
ENST00000478531.6:c.784+197_784+201del	ENSP00000420412.2:n.784+197_784+201del
ENST00000489037.2:c.906_910del	ENSP00000420781.2:p.Cys302Ter
ENST00000493919.6:c.646+197_646+201del	ENSP00000418819.2:n.646+197_646+201del
ENST00000494123.6:c.984_988del	ENSP00000419103.2:p.Cys328Ter
ENST00000497488.2:c.96_100del	ENSP00000418986.2:p.Cys32Ter
ENST00000618469.2:c.984_988del	ENSP00000478114.2:p.Cys328Ter
ENST00000634433.2:c.861_865del	ENSP00000489431.2:p.Cys287Ter
ENST00000644379.2:c.984_988del	ENSP00000496570.2:p.Cys328Ter
ENST00000644555.2:c.646+197_646+201del	ENSP00000494614.2:n.646+197_646+201del
ENST00000652672.2:c.843_847del	ENSP00000498906.2:p.Cys281Ter
ENST00000484087.6:c.664+197_664+201del	ENSP00000419481.2:n.664+197_664+201del
ENST00000700182.1:c.706+197_706+201del	ENSP00000514849.1:n.706+197_706+201del
ENST00000700183.1:c.*992_*996del	ENSP00000514850.1:n.*992_*996del
ENST00000357654.9:c.984_988del MANE Select	ENSP00000350283.3:p.Cys328Ter
ENST00000471181.7:c.984_988del	ENSP00000418960.2:p.Cys328Ter
ENST00000642945.1:c.*858_*862del	ENSP00000495897.1:n.*858_*862del
ENST00000652672.1:c.843_847del	ENSP00000498906.1:p.Cys281Ter
ENST00000352993.7:c.670+1299_670+1303del	ENSP00000312236.5:n.670+1299_670+1303del
ENST00000354071.7:c.984_988del	ENSP00000326002.7:p.Cys328Ter
ENST00000357654.7:c.984_988del	ENSP00000350283.3:p.Cys328Ter
ENST00000412061.3:c.335_339del
ENST00000461221.5:c.*767_*771del	ENSP00000418548.1:n.*767_*771del
ENST00000468300.5:c.787+197_787+201del	ENSP00000417148.1:n.787+197_787+201del
ENST00000470026.5:c.984_988del	ENSP00000419274.1:p.Cys328Ter
ENST00000471181.6:c.984_988del	ENSP00000418960.2:p.Cys328Ter
ENST00000473961.5:c.581_585del
ENST00000477152.5:c.906_910del	ENSP00000419988.1:p.Cys302Ter
ENST00000478531.5:c.784+197_784+201del	ENSP00000420412.1:n.784+197_784+201del
ENST00000484087.5:c.409+197_409+201del	ENSP00000419481.1:n.409+197_409+201del
ENST00000487825.5:c.412+197_412+201del	ENSP00000418212.1:n.412+197_412+201del
ENST00000491747.6:c.787+197_787+201del	ENSP00000420705.2:n.787+197_787+201del
ENST00000492859.5:c.*920_*924del	ENSP00000420253.1:n.*920_*924del
ENST00000493795.5:c.843_847del	ENSP00000418775.1:p.Cys281Ter
ENST00000493919.5:c.646+197_646+201del	ENSP00000418819.1:n.646+197_646+201del
ENST00000494123.5:c.984_988del	ENSP00000419103.1:p.Cys328Ter
ENST00000497488.1:c.96_100del	ENSP00000418986.1:p.Cys32Ter
ENST00000586385.5:c.5-30596_5-30592del	ENSP00000465818.1:n.5-30596_5-30592del
ENST00000591534.5:c.-43-20026_-43-20022del	ENSP00000467329.1:n.-43-20026_-43-20022de...
ENST00000591849.5:c.-99+30724_-99+30728del	ENSP00000465347.1:n.-99+30724_-99+30728de...
ENST00000634433.1:c.861_865del	ENSP00000489431.1:p.Cys287Ter
NM_007294.3:c.984_988del , LRG_292t1:c.984_988del	NP_009225.1:p.Cys328Ter
NM_007297.3:c.843_847del	NP_009228.2:p.Cys281Ter
NM_007298.3:c.787+197_787+201del	NP_009229.2:n.787+197_787+201del
NM_007299.3:c.787+197_787+201del	NP_009230.2:n.787+197_787+201del
NM_007300.3:c.984_988del	NP_009231.2:p.Cys328Ter
NR_027676.1:n.1120_1124del
NM_007294.4:c.984_988del MANE Select	NP_009225.1:p.Cys328Ter
NM_007297.4:c.843_847del	NP_009228.2:p.Cys281Ter
NM_007299.4:c.787+197_787+201del	NP_009230.2:n.787+197_787+201del
NM_007300.4:c.984_988del	NP_009231.2:p.Cys328Ter
NR_027676.2:n.1161_1165del