LDH info

Canonical Allele Identifier: CA002412
Gene: BRCA1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 96915
ClinVar RCV Id: RCV000083036
dbSNP Id: rs431825398

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091772del , CM000679.2:g.43091772del GRCh38
NC_000017.10:g.41243789del , CM000679.1:g.41243789del GRCh37
NC_000017.9:g.38497315del NCBI36
NG_005905.2:g.126212del , LRG_292:g.126212del

Transcript Alleles

HGVS Amino-acid change
NM_007294.3:c.3759del , LRG_292t1:c.3759del NP_009225.1:p.Lys1254ArgfsTer10
NM_007297.3:c.3618del VV NP_009228.2:p.Lys1207ArgfsTer10
NM_007298.3:c.788-740del VV NP_009229.2:p.=
NM_007299.3:c.788-740del VV NP_009230.2:p.=
NM_007300.3:c.3759del VV NP_009231.2:p.Lys1254ArgfsTer10
NR_027676.1:n.3895del
NM_007294.4:c.3759del VV MANE Preferred NP_009225.1:p.Lys1254ArgfsTer10
NM_007297.4:c.3618del VV NP_009228.2:p.Lys1207ArgfsTer10
NM_007299.4:c.788-740del VV NP_009230.2:p.=
NM_007300.4:c.3759del VV NP_009231.2:p.Lys1254ArgfsTer10
NR_027676.2:n.3936del
ENST00000352993.7:c.671-740del ENSP00000312236.5:p.=
ENST00000354071.7:c.3759del ENSP00000326002.7:p.Lys1254ArgfsTer10
ENST00000357654.7:c.3759del ENSP00000350283.3:p.Lys1254ArgfsTer10
ENST00000461221.5:c.*3542del ENSP00000418548.1:p.=
ENST00000461574.1:n.53del
ENST00000468300.5:c.788-740del ENSP00000417148.1:p.=
ENST00000471181.6:c.3759del ENSP00000418960.2:p.Lys1254ArgfsTer10
ENST00000478531.5:c.785-740del ENSP00000420412.1:p.=
ENST00000484087.5:n.410-740del ENSP00000419481.1:p.=
ENST00000487825.5:n.413-740del ENSP00000418212.1:p.=
ENST00000491747.6:c.788-740del ENSP00000420705.2:p.=
ENST00000493795.5:c.3618del ENSP00000418775.1:p.Lys1207ArgfsTer10
ENST00000493919.5:c.647-740del ENSP00000418819.1:p.=
ENST00000586385.5:c.5-27821del ENSP00000465818.1:p.=
ENST00000591534.5:c.-43-17251del ENSP00000467329.1:p.=
ENST00000591849.5:c.-99+33499del ENSP00000465347.1:p.=