LDH info

Canonical Allele Identifier: CA357224
Gene: ASL HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 224974
ClinVar RCV Id: RCV000210669
dbSNP Id: rs869312989

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66086794_66086799dup , CM000669.2:g.66086794_66086799dup GRCh38
NC_000007.13:g.65551781_65551786dup , CM000669.1:g.65551781_65551786dup GRCh37
NC_000007.12:g.65189216_65189221dup NCBI36
NG_009288.1:g.16006_16011dup

Transcript Alleles

HGVS Amino-acid change
NM_000048.3:c.575_580dup VV NP_000039.2:p.Arg193_Ile194insLysArg
NM_001024943.1:c.575_580dup VV NP_001020114.1:p.Arg193_Ile194insLysArg
NM_001024944.1:c.575_580dup VV NP_001020115.1:p.Arg193_Ile194insLysArg
NM_001024946.1:c.524+132_524+137dup VV NP_001020117.1:p.=
NM_000048.4:c.575_580dup VV MANE Preferred NP_000039.2:p.Arg193_Ile194insLysArg
NM_001024943.2:c.575_580dup VV NP_001020114.1:p.Arg193_Ile194insLysArg
NM_001024944.2:c.575_580dup VV NP_001020115.1:p.Arg193_Ile194insLysArg
NM_001024946.2:c.524+132_524+137dup VV NP_001020117.1:p.=
ENST00000304874.13:c.575_580dup ENSP00000307188.9:p.Arg193_Ile194insLysAr...
ENST00000362000.9:c.380_385dup ENSP00000354710.5:p.Arg128_Ile129insLysAr...
ENST00000380839.8:c.524+132_524+137dup ENSP00000370219.4:p.=
ENST00000395331.3:c.575_580dup ENSP00000378740.3:p.Arg193_Ile194insLysAr...
ENST00000395332.7:c.575_580dup ENSP00000378741.3:p.Arg193_Ile194insLysAr...
ENST00000487982.5:n.641_646dup