LDH info

Canonical Allele Identifier: CA001818
Gene: BRCA1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 54674
dbSNP Id: rs80357703

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43092769del , CM000679.2:g.43092769del GRCh38
NC_000017.10:g.41244786del , CM000679.1:g.41244786del GRCh37
NC_000017.9:g.38498312del NCBI36
NG_005905.2:g.125215del , LRG_292:g.125215del

Transcript Alleles

HGVS Amino-acid change
NM_007294.3:c.2762del , LRG_292t1:c.2762del NP_009225.1:p.Gln921ArgfsTer?
NM_007297.3:c.2621del VV NP_009228.2:p.Gln874ArgfsTer?
NM_007298.3:c.788-1737del VV NP_009229.2:p.=
NM_007299.3:c.788-1737del VV NP_009230.2:p.=
NM_007300.3:c.2762del VV NP_009231.2:p.Gln921ArgfsTer?
NR_027676.1:n.2898del
ENST00000352993.7:c.671-1737del ENSP00000312236.5:p.=
ENST00000354071.7:c.2762del ENSP00000326002.7:p.Gln921ArgfsTer?
ENST00000357654.7:c.2762del ENSP00000350283.3:p.Gln921ArgfsTer?
ENST00000461221.5:c.*2545del ENSP00000418548.1:p.=
ENST00000468300.5:c.788-1737del ENSP00000417148.1:p.=
ENST00000471181.6:c.2762del ENSP00000418960.2:p.Gln921ArgfsTer?
ENST00000478531.5:c.785-1737del ENSP00000420412.1:p.=
ENST00000484087.5:n.410-1737del ENSP00000419481.1:p.=
ENST00000487825.5:n.413-1737del ENSP00000418212.1:p.=
ENST00000491747.6:c.788-1737del ENSP00000420705.2:p.=
ENST00000493795.5:c.2621del ENSP00000418775.1:p.Gln874ArgfsTer?
ENST00000493919.5:c.647-1737del ENSP00000418819.1:p.=
ENST00000586385.5:c.5-28818del ENSP00000465818.1:p.=
ENST00000591534.5:c.-43-18248del ENSP00000467329.1:p.=
ENST00000591849.5:c.-99+32502del ENSP00000465347.1:p.=