Canonical Allele Identifier: CA658656801

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 482945
• ClinVar RCV Id: RCV000563239
• dbSNP Id: rs1555592676
• MyVariant Identifiers: chr17:g.41246538_41246550del (hg19) ; chr17:g.43094521_43094533del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094523_43094535del , CM000679.2:g.43094523_43094535del	GRCh38
NC_000017.10:g.41246540_41246552del , CM000679.1:g.41246540_41246552del	GRCh37
NC_000017.9:g.38500066_38500078del	NCBI36
NG_005905.2:g.123451_123463del , LRG_292:g.123451_123463del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.1062_1074del
ENST00000461574.2:c.998_1010del	ENSP00000417241.2:p.Thr333LysfsTer4
ENST00000470026.6:c.998_1010del	ENSP00000419274.2:p.Thr333LysfsTer4
ENST00000473961.6:c.872_884del	ENSP00000420201.2:p.Thr291LysfsTer4
ENST00000476777.6:c.995_1007del	ENSP00000417554.2:p.Thr332LysfsTer4
ENST00000477152.6:c.920_932del	ENSP00000419988.2:p.Thr307LysfsTer4
ENST00000478531.6:c.784+211_784+223del	ENSP00000420412.2:n.784+211_784+223del
ENST00000489037.2:c.920_932del	ENSP00000420781.2:p.Thr307LysfsTer4
ENST00000493919.6:c.646+211_646+223del	ENSP00000418819.2:n.646+211_646+223del
ENST00000494123.6:c.998_1010del	ENSP00000419103.2:p.Thr333LysfsTer4
ENST00000497488.2:c.110_122del	ENSP00000418986.2:p.Thr37LysfsTer4
ENST00000618469.2:c.998_1010del	ENSP00000478114.2:p.Thr333LysfsTer4
ENST00000634433.2:c.875_887del	ENSP00000489431.2:p.Thr292LysfsTer4
ENST00000644379.2:c.998_1010del	ENSP00000496570.2:p.Thr333LysfsTer4
ENST00000644555.2:c.646+211_646+223del	ENSP00000494614.2:n.646+211_646+223del
ENST00000652672.2:c.857_869del	ENSP00000498906.2:p.Thr286LysfsTer4
ENST00000484087.6:c.664+211_664+223del	ENSP00000419481.2:n.664+211_664+223del
ENST00000700182.1:c.706+211_706+223del	ENSP00000514849.1:n.706+211_706+223del
ENST00000700183.1:c.*1006_*1018del	ENSP00000514850.1:n.*1006_*1018del
ENST00000357654.9:c.998_1010del MANE Select	ENSP00000350283.3:p.Thr333LysfsTer4
ENST00000471181.7:c.998_1010del	ENSP00000418960.2:p.Thr333LysfsTer4
ENST00000642945.1:c.*872_*884del	ENSP00000495897.1:n.*872_*884del
ENST00000652672.1:c.857_869del	ENSP00000498906.1:p.Thr286LysfsTer4
ENST00000352993.7:c.670+1313_670+1325del	ENSP00000312236.5:n.670+1313_670+1325del
ENST00000354071.7:c.998_1010del	ENSP00000326002.7:p.Thr333LysfsTer4
ENST00000357654.7:c.998_1010del	ENSP00000350283.3:p.Thr333LysfsTer4
ENST00000412061.3:c.349_361del
ENST00000461221.5:c.*781_*793del	ENSP00000418548.1:n.*781_*793del
ENST00000468300.5:c.787+211_787+223del	ENSP00000417148.1:n.787+211_787+223del
ENST00000470026.5:c.998_1010del	ENSP00000419274.1:p.Thr333LysfsTer4
ENST00000471181.6:c.998_1010del	ENSP00000418960.2:p.Thr333LysfsTer4
ENST00000473961.5:c.595_607del
ENST00000477152.5:c.920_932del	ENSP00000419988.1:p.Thr307LysfsTer4
ENST00000478531.5:c.784+211_784+223del	ENSP00000420412.1:n.784+211_784+223del
ENST00000484087.5:c.409+211_409+223del	ENSP00000419481.1:n.409+211_409+223del
ENST00000487825.5:c.412+211_412+223del	ENSP00000418212.1:n.412+211_412+223del
ENST00000491747.6:c.787+211_787+223del	ENSP00000420705.2:n.787+211_787+223del
ENST00000492859.5:c.*934_*946del	ENSP00000420253.1:n.*934_*946del
ENST00000493795.5:c.857_869del	ENSP00000418775.1:p.Thr286LysfsTer4
ENST00000493919.5:c.646+211_646+223del	ENSP00000418819.1:n.646+211_646+223del
ENST00000494123.5:c.998_1010del	ENSP00000419103.1:p.Thr333LysfsTer4
ENST00000497488.1:c.110_122del	ENSP00000418986.1:p.Thr37LysfsTer4
ENST00000586385.5:c.5-30582_5-30570del	ENSP00000465818.1:n.5-30582_5-30570del
ENST00000591534.5:c.-43-20012_-43-20000del	ENSP00000467329.1:n.-43-20012_-43-20000de...
ENST00000591849.5:c.-99+30738_-99+30750del	ENSP00000465347.1:n.-99+30738_-99+30750de...
ENST00000634433.1:c.875_887del	ENSP00000489431.1:p.Thr292LysfsTer4
NM_007294.3:c.998_1010del , LRG_292t1:c.998_1010del	NP_009225.1:p.Thr333LysfsTer4
NM_007297.3:c.857_869del	NP_009228.2:p.Thr286LysfsTer4
NM_007298.3:c.787+211_787+223del	NP_009229.2:n.787+211_787+223del
NM_007299.3:c.787+211_787+223del	NP_009230.2:n.787+211_787+223del
NM_007300.3:c.998_1010del	NP_009231.2:p.Thr333LysfsTer4
NR_027676.1:n.1134_1146del
NM_007294.4:c.998_1010del MANE Select	NP_009225.1:p.Thr333LysfsTer4
NM_007297.4:c.857_869del	NP_009228.2:p.Thr286LysfsTer4
NM_007299.4:c.787+211_787+223del	NP_009230.2:n.787+211_787+223del
NM_007300.4:c.998_1010del	NP_009231.2:p.Thr333LysfsTer4
NR_027676.2:n.1175_1187del