LDH info

Canonical Allele Identifier: CA002410
Gene: BRCA1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 37544
dbSNP Id: rs80357520

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091771_43091772del , CM000679.2:g.43091771_43091772del GRCh38
NC_000017.10:g.41243788_41243789del , CM000679.1:g.41243788_41243789del GRCh37
NC_000017.9:g.38497314_38497315del NCBI36
NG_005905.2:g.126212_126213del , LRG_292:g.126212_126213del

Transcript Alleles

HGVS Amino-acid change
NM_007294.3:c.3759_3760del , LRG_292t1:c.3759_3760del NP_009225.1:p.Lys1254GlufsTer12
NM_007297.3:c.3618_3619del VV NP_009228.2:p.Lys1207GlufsTer12
NM_007298.3:c.788-740_788-739del VV NP_009229.2:p.=
NM_007299.3:c.788-740_788-739del VV NP_009230.2:p.=
NM_007300.3:c.3759_3760del VV NP_009231.2:p.Lys1254GlufsTer12
NR_027676.1:n.3895_3896del
NM_007294.4:c.3759_3760del VV MANE Preferred NP_009225.1:p.Lys1254GlufsTer12
NM_007297.4:c.3618_3619del VV NP_009228.2:p.Lys1207GlufsTer12
NM_007299.4:c.788-740_788-739del VV NP_009230.2:p.=
NM_007300.4:c.3759_3760del VV NP_009231.2:p.Lys1254GlufsTer12
NR_027676.2:n.3936_3937del
ENST00000352993.7:c.671-740_671-739del ENSP00000312236.5:p.=
ENST00000354071.7:c.3759_3760del ENSP00000326002.7:p.Lys1254GlufsTer12
ENST00000357654.7:c.3759_3760del ENSP00000350283.3:p.Lys1254GlufsTer12
ENST00000461221.5:c.*3542_*3543del ENSP00000418548.1:p.=
ENST00000461574.1:n.53_54del
ENST00000468300.5:c.788-740_788-739del ENSP00000417148.1:p.=
ENST00000471181.6:c.3759_3760del ENSP00000418960.2:p.Lys1254GlufsTer12
ENST00000478531.5:c.785-740_785-739del ENSP00000420412.1:p.=
ENST00000484087.5:n.410-740_410-739del ENSP00000419481.1:p.=
ENST00000487825.5:n.413-740_413-739del ENSP00000418212.1:p.=
ENST00000491747.6:c.788-740_788-739del ENSP00000420705.2:p.=
ENST00000493795.5:c.3618_3619del ENSP00000418775.1:p.Lys1207GlufsTer12
ENST00000493919.5:c.647-740_647-739del ENSP00000418819.1:p.=
ENST00000586385.5:c.5-27821_5-27820del ENSP00000465818.1:p.=
ENST00000591534.5:c.-43-17251_-43-17250del ENSP00000467329.1:p.=
ENST00000591849.5:c.-99+33499_-99+33500del ENSP00000465347.1:p.=