LDH info

Canonical Allele Identifier: CA315002
Gene:

Identifiers and link-outs to other resources

ClinVar Variation Id: 205685
ClinVar RCV Id: RCV000187672
dbSNP Id: rs796052560

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.9938340del , CM000678.2:g.9938340del GRCh38
NC_000016.9:g.10032197del , CM000678.1:g.10032197del GRCh37
NC_000016.8:g.9939698del NCBI36
NG_011812.1:g.249416del
NG_011812.2:g.249416del

Transcript Alleles

HGVS Amino-acid change
NM_000833.4:c.627del VV NP_000824.1:p.Phe210LeufsTer10
NM_001134407.2:c.627del VV NP_001127879.1:p.Phe210LeufsTer10
NM_001134408.2:c.627del VV NP_001127880.1:p.Phe210LeufsTer10
XM_011522456.1:c.468del XP_011520758.1:p.Phe157LeufsTer10
XM_011522457.1:c.369del XP_011520759.1:p.Phe124LeufsTer10
XM_011522458.1:c.156del XP_011520760.1:p.Phe53LeufsTer10
XM_011522459.1:c.156del XP_011520761.1:p.Phe53LeufsTer10
XM_011522460.1:c.156del XP_011520762.1:p.Phe53LeufsTer10
XM_011522461.1:c.627del XP_011520763.1:p.Phe210LeufsTer10
XM_011522458.3:c.156del XP_011520760.1:p.Phe53LeufsTer10
XM_011522461.3:c.627del XP_011520763.1:p.Phe210LeufsTer10
XM_017023172.1:c.783del XP_016878661.1:p.Phe262LeufsTer10
XM_017023173.1:c.783del XP_016878662.1:p.Phe262LeufsTer10
NM_001134407.3:c.627del VV NP_001127879.1:p.Phe210LeufsTer10
ENST00000330684.3:c.627del ENSP00000332549.3:p.Phe210LeufsTer10
ENST00000396573.6:c.627del ENSP00000379818.2:p.Phe210LeufsTer10
ENST00000396575.6:n.216del ENSP00000379820.3:p.Phe73LeufsTer10
ENST00000461292.3:n.266del
ENST00000535259.5:c.216del ENSP00000441572.2:p.Phe73LeufsTer10
ENST00000562109.5:c.627del ENSP00000454998.1:p.Phe210LeufsTer10
ENST00000566670.2:n.469del
ENST00000566683.1:n.241-47239del
ENST00000568247.3:n.519del