LDH info

Canonical Allele Identifier: CA16041936
Gene: LAMA3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370424
ClinVar RCV Id: RCV000409334
dbSNP Id: rs1057516476

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23904584del , CM000680.2:g.23904584del GRCh38
NC_000018.9:g.21484548del , CM000680.1:g.21484548del GRCh37
NC_000018.8:g.19738546del NCBI36
NG_007853.2:g.219987del

Transcript Alleles

HGVS Amino-acid change
NM_000227.4:c.1678del VV NP_000218.3:p.Val560CysfsTer?
NM_001127717.2:c.6337del VV NP_001121189.2:p.Val2113CysfsTer?
NM_001127718.2:c.1510del VV NP_001121190.2:p.Val504CysfsTer?
NM_198129.2:c.6505del VV NP_937762.2:p.Val2169CysfsTer?
XM_011525978.1:c.6532del XP_011524280.1:p.Val2178CysfsTer?
XM_011525979.1:c.6523del XP_011524281.1:p.Val2175CysfsTer?
XM_011525980.1:c.6514del XP_011524282.1:p.Val2172CysfsTer?
XM_011525981.1:c.6400del XP_011524283.1:p.Val2134CysfsTer?
XM_011525982.1:c.6532del XP_011524284.1:p.Val2178CysfsTer?
XM_011525978.2:c.6532del XP_011524280.1:p.Val2178CysfsTer?
XM_011525979.2:c.6523del XP_011524281.1:p.Val2175CysfsTer?
XM_011525980.2:c.6514del XP_011524282.1:p.Val2172CysfsTer?
XM_011525981.2:c.6400del XP_011524283.1:p.Val2134CysfsTer?
XM_011525982.2:c.6532del XP_011524284.1:p.Val2178CysfsTer?
XM_017025743.1:c.4384del XP_016881232.1:p.Val1462CysfsTer?
XM_017025744.1:c.2074del XP_016881233.1:p.Val692CysfsTer?
XR_001753199.1:n.6773del
NM_000227.5:c.1678del VV NP_000218.3:p.Val560CysfsTer?
NM_001127717.3:c.6337del VV NP_001121189.2:p.Val2113CysfsTer?
NM_001127718.3:c.1510del VV NP_001121190.2:p.Val504CysfsTer?
NM_198129.3:c.6505del VV NP_937762.2:p.Val2169CysfsTer?
ENST00000269217.10:c.1678del ENSP00000269217.5:p.Val560CysfsTer?
ENST00000313654.13:c.6505del ENSP00000324532.8:p.Val2169CysfsTer?
ENST00000399516.7:n.6337del ENSP00000382432.2:p.Val2113CysfsTer?
ENST00000586751.5:n.1283del
ENST00000587184.5:n.1510del ENSP00000466557.1:p.Val504CysfsTer?
ENST00000588770.5:n.1083del