LDH info

Canonical Allele Identifier: CA002406
Gene: BRCA1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 54989
ClinVar RCV Id: RCV000257855
dbSNP Id: rs397509099

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091774_43091775del , CM000679.2:g.43091774_43091775del GRCh38
NC_000017.10:g.41243791_41243792del , CM000679.1:g.41243791_41243792del GRCh37
NC_000017.9:g.38497317_38497318del NCBI36
NG_005905.2:g.126208_126209del , LRG_292:g.126208_126209del

Transcript Alleles

HGVS Amino-acid change
NM_007294.3:c.3755_3756del , LRG_292t1:c.3755_3756del NP_009225.1:p.Ser1253Ter
NM_007297.3:c.3614_3615del VV NP_009228.2:p.Ser1206Ter
NM_007298.3:c.788-744_788-743del VV NP_009229.2:p.=
NM_007299.3:c.788-744_788-743del VV NP_009230.2:p.=
NM_007300.3:c.3755_3756del VV NP_009231.2:p.Ser1253Ter
NR_027676.1:n.3891_3892del
NM_007294.4:c.3755_3756del VV MANE Preferred NP_009225.1:p.Ser1253Ter
NM_007297.4:c.3614_3615del VV NP_009228.2:p.Ser1206Ter
NM_007299.4:c.788-744_788-743del VV NP_009230.2:p.=
NM_007300.4:c.3755_3756del VV NP_009231.2:p.Ser1253Ter
NR_027676.2:n.3932_3933del
ENST00000352993.7:c.671-744_671-743del ENSP00000312236.5:p.=
ENST00000354071.7:c.3755_3756del ENSP00000326002.7:p.Ser1253Ter
ENST00000357654.7:c.3755_3756del ENSP00000350283.3:p.Ser1253Ter
ENST00000461221.5:c.*3538_*3539del ENSP00000418548.1:p.=
ENST00000461574.1:n.49_50del
ENST00000468300.5:c.788-744_788-743del ENSP00000417148.1:p.=
ENST00000471181.6:c.3755_3756del ENSP00000418960.2:p.Ser1253Ter
ENST00000478531.5:c.785-744_785-743del ENSP00000420412.1:p.=
ENST00000484087.5:n.410-744_410-743del ENSP00000419481.1:p.=
ENST00000487825.5:n.413-744_413-743del ENSP00000418212.1:p.=
ENST00000491747.6:c.788-744_788-743del ENSP00000420705.2:p.=
ENST00000493795.5:c.3614_3615del ENSP00000418775.1:p.Ser1206Ter
ENST00000493919.5:c.647-744_647-743del ENSP00000418819.1:p.=
ENST00000586385.5:c.5-27825_5-27824del ENSP00000465818.1:p.=
ENST00000591534.5:c.-43-17255_-43-17254del ENSP00000467329.1:p.=
ENST00000591849.5:c.-99+33495_-99+33496del ENSP00000465347.1:p.=