LDH info

Canonical Allele Identifier: CA913190411
Gene: BRCA1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 634809
ClinVar RCV Id: RCV000785594
dbSNP Id: rs1567790190

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091762_43091780del , CM000679.2:g.43091762_43091780del GRCh38
NC_000017.10:g.41243779_41243797del , CM000679.1:g.41243779_41243797del GRCh37
NC_000017.9:g.38497305_38497323del NCBI36
NG_005905.2:g.126202_126220del , LRG_292:g.126202_126220del

Transcript Alleles

HGVS Amino-acid change
NM_007294.3:c.3749_3767del , LRG_292t1:c.3749_3767del NP_009225.1:p.Cys1251ArgfsTer7
NM_007297.3:c.3608_3626del VV NP_009228.2:p.Cys1204ArgfsTer7
NM_007298.3:c.788-750_788-732del VV NP_009229.2:p.=
NM_007299.3:c.788-750_788-732del VV NP_009230.2:p.=
NM_007300.3:c.3749_3767del VV NP_009231.2:p.Cys1251ArgfsTer7
NR_027676.1:n.3885_3903del
NM_007294.4:c.3749_3767del VV MANE Preferred NP_009225.1:p.Cys1251ArgfsTer7
NM_007297.4:c.3608_3626del VV NP_009228.2:p.Cys1204ArgfsTer7
NM_007299.4:c.788-750_788-732del VV NP_009230.2:p.=
NM_007300.4:c.3749_3767del VV NP_009231.2:p.Cys1251ArgfsTer7
NR_027676.2:n.3926_3944del
ENST00000352993.7:c.671-750_671-732del ENSP00000312236.5:p.=
ENST00000354071.7:c.3749_3767del ENSP00000326002.7:p.Cys1251ArgfsTer7
ENST00000357654.7:c.3749_3767del ENSP00000350283.3:p.Cys1251ArgfsTer7
ENST00000461221.5:c.*3532_*3550del ENSP00000418548.1:p.=
ENST00000461574.1:n.43_61del
ENST00000468300.5:c.788-750_788-732del ENSP00000417148.1:p.=
ENST00000471181.6:c.3749_3767del ENSP00000418960.2:p.Cys1251ArgfsTer7
ENST00000478531.5:c.785-750_785-732del ENSP00000420412.1:p.=
ENST00000484087.5:n.410-750_410-732del ENSP00000419481.1:p.=
ENST00000487825.5:n.413-750_413-732del ENSP00000418212.1:p.=
ENST00000491747.6:c.788-750_788-732del ENSP00000420705.2:p.=
ENST00000493795.5:c.3608_3626del ENSP00000418775.1:p.Cys1204ArgfsTer7
ENST00000493919.5:c.647-750_647-732del ENSP00000418819.1:p.=
ENST00000586385.5:c.5-27831_5-27813del ENSP00000465818.1:p.=
ENST00000591534.5:c.-43-17261_-43-17243del ENSP00000467329.1:p.=
ENST00000591849.5:c.-99+33489_-99+33507del ENSP00000465347.1:p.=