LDH info

Canonical Allele Identifier: CA645373174
Gene: BRCA1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 431252
dbSNP Id: rs1135401866

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091777_43091778del , CM000679.2:g.43091777_43091778del GRCh38
NC_000017.10:g.41243794_41243795del , CM000679.1:g.41243794_41243795del GRCh37
NC_000017.9:g.38497320_38497321del NCBI36
NG_005905.2:g.126207_126208del , LRG_292:g.126207_126208del

Transcript Alleles

HGVS Amino-acid change
NM_007294.3:c.3754_3755del , LRG_292t1:c.3754_3755del NP_009225.1:p.Leu1252ValfsTer2
NM_007297.3:c.3613_3614del VV NP_009228.2:p.Leu1205ValfsTer2
NM_007298.3:c.788-745_788-744del VV NP_009229.2:p.=
NM_007299.3:c.788-745_788-744del VV NP_009230.2:p.=
NM_007300.3:c.3754_3755del VV NP_009231.2:p.Leu1252ValfsTer2
NR_027676.1:n.3890_3891del
NM_007294.4:c.3754_3755del VV MANE Preferred NP_009225.1:p.Leu1252ValfsTer2
NM_007297.4:c.3613_3614del VV NP_009228.2:p.Leu1205ValfsTer2
NM_007299.4:c.788-745_788-744del VV NP_009230.2:p.=
NM_007300.4:c.3754_3755del VV NP_009231.2:p.Leu1252ValfsTer2
NR_027676.2:n.3931_3932del
ENST00000352993.7:c.671-745_671-744del ENSP00000312236.5:p.=
ENST00000354071.7:c.3754_3755del ENSP00000326002.7:p.Leu1252ValfsTer2
ENST00000357654.7:c.3754_3755del ENSP00000350283.3:p.Leu1252ValfsTer2
ENST00000461221.5:c.*3537_*3538del ENSP00000418548.1:p.=
ENST00000461574.1:n.48_49del
ENST00000468300.5:c.788-745_788-744del ENSP00000417148.1:p.=
ENST00000471181.6:c.3754_3755del ENSP00000418960.2:p.Leu1252ValfsTer2
ENST00000478531.5:c.785-745_785-744del ENSP00000420412.1:p.=
ENST00000484087.5:n.410-745_410-744del ENSP00000419481.1:p.=
ENST00000487825.5:n.413-745_413-744del ENSP00000418212.1:p.=
ENST00000491747.6:c.788-745_788-744del ENSP00000420705.2:p.=
ENST00000493795.5:c.3613_3614del ENSP00000418775.1:p.Leu1205ValfsTer2
ENST00000493919.5:c.647-745_647-744del ENSP00000418819.1:p.=
ENST00000586385.5:c.5-27826_5-27825del ENSP00000465818.1:p.=
ENST00000591534.5:c.-43-17256_-43-17255del ENSP00000467329.1:p.=
ENST00000591849.5:c.-99+33494_-99+33495del ENSP00000465347.1:p.=