LDH info

Canonical Allele Identifier: CA10602596
Gene: BRCA1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 267616
ClinVar RCV Id: RCV000258229

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43093750_43094886del , CM000679.2:g.43093750_43094886del GRCh38
NC_000017.10:g.41245767_41246903del , CM000679.1:g.41245767_41246903del GRCh37
NC_000017.9:g.38499293_38500429del NCBI36
NG_005905.2:g.123097_124233del , LRG_292:g.123097_124233del

Transcript Alleles

HGVS Amino-acid change
NM_007294.3:c.671-27_1780del , LRG_292t1:c.671-27_1780del
NM_007297.3:c.530-27_1639del VV
NM_007298.3:c.671-27_787+993del VV
NM_007299.3:c.671-27_787+993del VV
NM_007300.3:c.671-27_1780del VV
NR_027676.1:n.807-27_1916del
NM_007294.4:c.671-27_1780del VV MANE Preferred
NM_007297.4:c.530-27_1639del VV
NM_007299.4:c.671-27_787+993del VV
NM_007300.4:c.671-27_1780del VV
NR_027676.2:n.848-27_1957del
ENST00000352993.7:c.670+959_670+2095del ENSP00000312236.5:p.=
ENST00000354071.7:c.671-27_1780del
ENST00000357654.7:c.671-27_1780del
ENST00000412061.3:n.22-27_1131del
ENST00000461221.5:c.*454-27_*1563del
ENST00000468300.5:c.671-27_787+993del
ENST00000470026.5:c.671-27_1780del
ENST00000471181.6:c.671-27_1780del
ENST00000477152.5:c.593-27_1702del
ENST00000478531.5:c.668-27_784+993del
ENST00000484087.5:n.293-27_409+993del
ENST00000487825.5:n.296-27_412+993del
ENST00000491747.6:c.671-27_787+993del
ENST00000493795.5:c.530-27_1639del
ENST00000493919.5:c.530-27_646+993del
ENST00000586385.5:c.4+30295_5-29800del ENSP00000465818.1:p.=
ENST00000591534.5:c.-43-20366_-43-19230del ENSP00000467329.1:p.=
ENST00000591849.5:c.-99+30384_-99+31520del ENSP00000465347.1:p.=
ENST00000634433.1:c.548-27_1657del