LDH info

Canonical Allele Identifier: CA658656801
Gene: BRCA1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 482945
ClinVar RCV Id: RCV000563239
dbSNP Id: rs1555592676

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
NM_007294.3:c.998_1010del , LRG_292t1:c.998_1010del NP_009225.1:p.Thr333LysfsTer4
NM_007297.3:c.857_869del VV NP_009228.2:p.Thr286LysfsTer4
NM_007298.3:c.787+211_787+223del VV NP_009229.2:p.=
NM_007299.3:c.787+211_787+223del VV NP_009230.2:p.=
NM_007300.3:c.998_1010del VV NP_009231.2:p.Thr333LysfsTer4
NR_027676.1:n.1134_1146del
NM_007294.4:c.998_1010del VV MANE Preferred NP_009225.1:p.Thr333LysfsTer4
NM_007297.4:c.857_869del VV NP_009228.2:p.Thr286LysfsTer4
NM_007299.4:c.787+211_787+223del VV NP_009230.2:p.=
NM_007300.4:c.998_1010del VV NP_009231.2:p.Thr333LysfsTer4
NR_027676.2:n.1175_1187del
ENST00000352993.7:c.670+1313_670+1325del ENSP00000312236.5:p.=
ENST00000354071.7:c.998_1010del ENSP00000326002.7:p.Thr333LysfsTer4
ENST00000357654.7:c.998_1010del ENSP00000350283.3:p.Thr333LysfsTer4
ENST00000412061.3:n.349_361del
ENST00000461221.5:c.*781_*793del ENSP00000418548.1:p.=
ENST00000468300.5:c.787+211_787+223del ENSP00000417148.1:p.=
ENST00000470026.5:c.998_1010del ENSP00000419274.1:p.Thr333LysfsTer4
ENST00000471181.6:c.998_1010del ENSP00000418960.2:p.Thr333LysfsTer4
ENST00000473961.5:n.595_607del
ENST00000477152.5:c.920_932del ENSP00000419988.1:p.Thr307LysfsTer4
ENST00000478531.5:c.784+211_784+223del ENSP00000420412.1:p.=
ENST00000484087.5:n.409+211_409+223del ENSP00000419481.1:p.=
ENST00000487825.5:n.412+211_412+223del ENSP00000418212.1:p.=
ENST00000491747.6:c.787+211_787+223del ENSP00000420705.2:p.=
ENST00000492859.5:c.*934_*946del ENSP00000420253.1:p.=
ENST00000493795.5:c.857_869del ENSP00000418775.1:p.Thr286LysfsTer4
ENST00000493919.5:c.646+211_646+223del ENSP00000418819.1:p.=
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:p.=
ENST00000591534.5:c.-43-20012_-43-20000del ENSP00000467329.1:p.=
ENST00000591849.5:c.-99+30738_-99+30750del ENSP00000465347.1:p.=
ENST00000634433.1:c.875_887del ENSP00000489431.1:p.Thr292LysfsTer4