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.43091764_43091782del , CM000679.2:g.43091764_43091782del GRCh38
NC_000017.10:g.41243781_41243799del , CM000679.1:g.41243781_41243799del GRCh37
NC_000017.9:g.38497307_38497325del NCBI36
NG_005905.2:g.126204_126222del , LRG_292:g.126204_126222del

Transcript Alleles

HGVS Amino-acid change
NM_007294.3:c.3751_3769del , LRG_292t1:c.3751_3769del NP_009225.1:p.Cys1251ArgfsTer7
NM_007297.3:c.3610_3628del VV NP_009228.2:p.Cys1204ArgfsTer7
NM_007298.3:c.788-748_788-730del VV NP_009229.2:p.=
NM_007299.3:c.788-748_788-730del VV NP_009230.2:p.=
NM_007300.3:c.3751_3769del VV NP_009231.2:p.Cys1251ArgfsTer7
NR_027676.1:n.3887_3905del
NM_007294.4:c.3751_3769del VV MANE Preferred NP_009225.1:p.Cys1251ArgfsTer7
NM_007297.4:c.3610_3628del VV NP_009228.2:p.Cys1204ArgfsTer7
NM_007299.4:c.788-748_788-730del VV NP_009230.2:p.=
NM_007300.4:c.3751_3769del VV NP_009231.2:p.Cys1251ArgfsTer7
NR_027676.2:n.3928_3946del
ENST00000352993.7:c.671-748_671-730del ENSP00000312236.5:p.=
ENST00000354071.7:c.3751_3769del ENSP00000326002.7:p.Cys1251ArgfsTer7
ENST00000357654.7:c.3751_3769del ENSP00000350283.3:p.Cys1251ArgfsTer7
ENST00000461221.5:c.*3534_*3552del ENSP00000418548.1:p.=
ENST00000461574.1:n.45_63del
ENST00000468300.5:c.788-748_788-730del ENSP00000417148.1:p.=
ENST00000471181.6:c.3751_3769del ENSP00000418960.2:p.Cys1251ArgfsTer7
ENST00000478531.5:c.785-748_785-730del ENSP00000420412.1:p.=
ENST00000484087.5:n.410-748_410-730del ENSP00000419481.1:p.=
ENST00000487825.5:n.413-748_413-730del ENSP00000418212.1:p.=
ENST00000491747.6:c.788-748_788-730del ENSP00000420705.2:p.=
ENST00000493795.5:c.3610_3628del ENSP00000418775.1:p.Cys1204ArgfsTer7
ENST00000493919.5:c.647-748_647-730del ENSP00000418819.1:p.=
ENST00000586385.5:c.5-27829_5-27811del ENSP00000465818.1:p.=
ENST00000591534.5:c.-43-17259_-43-17241del ENSP00000467329.1:p.=
ENST00000591849.5:c.-99+33491_-99+33509del ENSP00000465347.1:p.=