LDH info

Canonical Allele Identifier: CA16041620
Gene: SACS HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371666
ClinVar RCV Id: RCV000410317
dbSNP Id: rs1057517451

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23336375_23336385del , CM000675.2:g.23336375_23336385del GRCh38
NC_000013.10:g.23910514_23910524del , CM000675.1:g.23910514_23910524del GRCh37
NC_000013.9:g.22808514_22808524del NCBI36
NG_012342.1:g.102321_102331del

Transcript Alleles

HGVS Amino-acid change
NM_001278055.1:c.7053_7063del VV NP_001264984.1:p.Val2352ThrfsTer?
NM_014363.5:c.7494_7504del VV NP_055178.3:p.Val2499ThrfsTer?
XM_005266338.1:c.7521_7531del XP_005266395.1:p.Val2508ThrfsTer?
XM_011535038.1:c.7545_7555del XP_011533340.1:p.Val2516ThrfsTer?
XM_011535039.1:c.7512_7522del XP_011533341.1:p.Val2505ThrfsTer?
XM_005266338.2:c.7521_7531del XP_005266395.1:p.Val2508ThrfsTer?
XM_011535039.2:c.7512_7522del XP_011533341.1:p.Val2505ThrfsTer?
XM_017020539.1:c.7485_7495del XP_016876028.1:p.Val2496ThrfsTer?
XM_024449337.1:c.7521_7531del XP_024305105.1:p.Val2508ThrfsTer?
NM_014363.6:c.7494_7504del VV MANE Preferred NP_055178.3:p.Val2499ThrfsTer?
NM_001278055.2:c.7053_7063del VV NP_001264984.1:p.Val2352ThrfsTer?
ENST00000382292.7:c.7494_7504del ENSP00000371729.3:p.Val2499ThrfsTer?
ENST00000382298.7:c.7494_7504del ENSP00000371735.3:p.Val2499ThrfsTer?
ENST00000402364.1:c.5244_5254del ENSP00000385844.1:p.Val1749ThrfsTer?
ENST00000423156.1:n.1058-6898_1058-6888del ENSP00000390925.1:p.=
ENST00000455470.5:n.2129+5063_2129+5073del