LDH info

Canonical Allele Identifier: CA002481
Gene: BRCA1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 266412
ClinVar RCV Id: RCV000257561
dbSNP Id: rs397507221

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091680_43091681dup , CM000679.2:g.43091680_43091681dup GRCh38
NC_000017.10:g.41243697_41243698dup , CM000679.1:g.41243697_41243698dup GRCh37
NC_000017.9:g.38497223_38497224dup NCBI36
NG_005905.2:g.126304_126305dup , LRG_292:g.126304_126305dup

Transcript Alleles

HGVS Amino-acid change
NM_007294.3:c.3851_3852dup , LRG_292t1:c.3851_3852dup NP_009225.1:p.Leu1285ThrfsTer23
NM_007297.3:c.3710_3711dup VV NP_009228.2:p.Leu1238ThrfsTer23
NM_007298.3:c.788-648_788-647dup VV NP_009229.2:p.=
NM_007299.3:c.788-648_788-647dup VV NP_009230.2:p.=
NM_007300.3:c.3851_3852dup VV NP_009231.2:p.Leu1285ThrfsTer23
NR_027676.1:n.3987_3988dup
NM_007294.4:c.3851_3852dup VV MANE Preferred NP_009225.1:p.Leu1285ThrfsTer23
NM_007297.4:c.3710_3711dup VV NP_009228.2:p.Leu1238ThrfsTer23
NM_007299.4:c.788-648_788-647dup VV NP_009230.2:p.=
NM_007300.4:c.3851_3852dup VV NP_009231.2:p.Leu1285ThrfsTer23
NR_027676.2:n.4028_4029dup
ENST00000352993.7:c.671-648_671-647dup ENSP00000312236.5:p.=
ENST00000354071.7:c.3851_3852dup ENSP00000326002.7:p.Leu1285ThrfsTer23
ENST00000357654.7:c.3851_3852dup ENSP00000350283.3:p.Leu1285ThrfsTer23
ENST00000461221.5:c.*3634_*3635dup ENSP00000418548.1:p.=
ENST00000461574.1:n.145_146dup
ENST00000468300.5:c.788-648_788-647dup ENSP00000417148.1:p.=
ENST00000471181.6:c.3851_3852dup ENSP00000418960.2:p.Leu1285ThrfsTer23
ENST00000478531.5:c.785-648_785-647dup ENSP00000420412.1:p.=
ENST00000484087.5:n.410-648_410-647dup ENSP00000419481.1:p.=
ENST00000487825.5:n.413-648_413-647dup ENSP00000418212.1:p.=
ENST00000491747.6:c.788-648_788-647dup ENSP00000420705.2:p.=
ENST00000493795.5:c.3710_3711dup ENSP00000418775.1:p.Leu1238ThrfsTer23
ENST00000493919.5:c.647-648_647-647dup ENSP00000418819.1:p.=
ENST00000586385.5:c.5-27729_5-27728dup ENSP00000465818.1:p.=
ENST00000591534.5:c.-43-17159_-43-17158dup ENSP00000467329.1:p.=
ENST00000591849.5:c.-99+33591_-99+33592dup ENSP00000465347.1:p.=