LDH info

Canonical Allele Identifier: CA16041637
Gene: SACS HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370181
ClinVar RCV Id: RCV000409192
dbSNP Id: rs1057516294

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23339406_23339412del , CM000675.2:g.23339406_23339412del GRCh38
NC_000013.10:g.23913545_23913551del , CM000675.1:g.23913545_23913551del GRCh37
NC_000013.9:g.22811545_22811551del NCBI36
NG_012342.1:g.99292_99298del

Transcript Alleles

HGVS Amino-acid change
NM_001278055.1:c.4024_4030del VV NP_001264984.1:p.Asn1342GlnfsTer6
NM_014363.5:c.4465_4471del VV NP_055178.3:p.Asn1489GlnfsTer6
XM_005266338.1:c.4492_4498del XP_005266395.1:p.Asn1498GlnfsTer6
XM_011535038.1:c.4516_4522del XP_011533340.1:p.Asn1506GlnfsTer6
XM_011535039.1:c.4483_4489del XP_011533341.1:p.Asn1495GlnfsTer6
XM_005266338.2:c.4492_4498del XP_005266395.1:p.Asn1498GlnfsTer6
XM_011535039.2:c.4483_4489del XP_011533341.1:p.Asn1495GlnfsTer6
XM_017020539.1:c.4456_4462del XP_016876028.1:p.Asn1486GlnfsTer6
XM_024449337.1:c.4492_4498del XP_024305105.1:p.Asn1498GlnfsTer6
NM_014363.6:c.4465_4471del VV MANE Preferred NP_055178.3:p.Asn1489GlnfsTer6
NM_001278055.2:c.4024_4030del VV NP_001264984.1:p.Asn1342GlnfsTer6
ENST00000382292.7:c.4465_4471del ENSP00000371729.3:p.Asn1489GlnfsTer6
ENST00000382298.7:c.4465_4471del ENSP00000371735.3:p.Asn1489GlnfsTer6
ENST00000402364.1:c.2215_2221del ENSP00000385844.1:p.Asn739GlnfsTer6
ENST00000423156.1:n.1058-9927_1058-9921del ENSP00000390925.1:p.=
ENST00000455470.5:n.2129+2034_2129+2040del