LDH info

Canonical Allele Identifier: CA002486
Gene: BRCA1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 37553

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091672_43091675del , CM000679.2:g.43091672_43091675del GRCh38
NC_000017.10:g.41243689_41243692del , CM000679.1:g.41243689_41243692del GRCh37
NC_000017.9:g.38497215_38497218del NCBI36
NG_005905.2:g.126311_126314del , LRG_292:g.126311_126314del

Transcript Alleles

HGVS Amino-acid change
NM_007294.3:c.3858_3861del , LRG_292t1:c.3858_3861del NP_009225.1:p.Ser1286ArgfsTer20
NM_007297.3:c.3717_3720del VV NP_009228.2:p.Ser1239ArgfsTer20
NM_007298.3:c.788-641_788-638del VV NP_009229.2:p.=
NM_007299.3:c.788-641_788-638del VV NP_009230.2:p.=
NM_007300.3:c.3858_3861del VV NP_009231.2:p.Ser1286ArgfsTer20
NR_027676.1:n.3994_3997del
NM_007294.4:c.3858_3861del VV MANE Preferred NP_009225.1:p.Ser1286ArgfsTer20
NM_007297.4:c.3717_3720del VV NP_009228.2:p.Ser1239ArgfsTer20
NM_007299.4:c.788-641_788-638del VV NP_009230.2:p.=
NM_007300.4:c.3858_3861del VV NP_009231.2:p.Ser1286ArgfsTer20
NR_027676.2:n.4035_4038del
ENST00000352993.7:c.671-641_671-638del ENSP00000312236.5:p.=
ENST00000354071.7:c.3858_3861del ENSP00000326002.7:p.Ser1286ArgfsTer20
ENST00000357654.7:c.3858_3861del ENSP00000350283.3:p.Ser1286ArgfsTer20
ENST00000461221.5:c.*3641_*3644del ENSP00000418548.1:p.=
ENST00000461574.1:n.152_155del
ENST00000468300.5:c.788-641_788-638del ENSP00000417148.1:p.=
ENST00000471181.6:c.3858_3861del ENSP00000418960.2:p.Ser1286ArgfsTer20
ENST00000478531.5:c.785-641_785-638del ENSP00000420412.1:p.=
ENST00000484087.5:n.410-641_410-638del ENSP00000419481.1:p.=
ENST00000487825.5:n.413-641_413-638del ENSP00000418212.1:p.=
ENST00000491747.6:c.788-641_788-638del ENSP00000420705.2:p.=
ENST00000493795.5:c.3717_3720del ENSP00000418775.1:p.Ser1239ArgfsTer20
ENST00000493919.5:c.647-641_647-638del ENSP00000418819.1:p.=
ENST00000586385.5:c.5-27722_5-27719del ENSP00000465818.1:p.=
ENST00000591534.5:c.-43-17152_-43-17149del ENSP00000467329.1:p.=
ENST00000591849.5:c.-99+33598_-99+33601del ENSP00000465347.1:p.=