LDH info

Canonical Allele Identifier: CA16041610
Gene: SACS HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370406
ClinVar RCV Id: RCV000410298
dbSNP Id: rs1057516464

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23334045_23334058del , CM000675.2:g.23334045_23334058del GRCh38
NC_000013.10:g.23908184_23908197del , CM000675.1:g.23908184_23908197del GRCh37
NC_000013.9:g.22806184_22806197del NCBI36
NG_012342.1:g.104645_104658del

Transcript Alleles

HGVS Amino-acid change
NM_001278055.1:c.9377_9390del VV NP_001264984.1:p.Asp3126ValfsTer20
NM_014363.5:c.9818_9831del VV NP_055178.3:p.Asp3273ValfsTer20
XM_005266338.1:c.9845_9858del XP_005266395.1:p.Asp3282ValfsTer20
XM_011535038.1:c.9869_9882del XP_011533340.1:p.Asp3290ValfsTer20
XM_011535039.1:c.9836_9849del XP_011533341.1:p.Asp3279ValfsTer20
XM_005266338.2:c.9845_9858del XP_005266395.1:p.Asp3282ValfsTer20
XM_011535039.2:c.9836_9849del XP_011533341.1:p.Asp3279ValfsTer20
XM_017020539.1:c.9809_9822del XP_016876028.1:p.Asp3270ValfsTer20
XM_024449337.1:c.9845_9858del XP_024305105.1:p.Asp3282ValfsTer20
NM_014363.6:c.9818_9831del VV MANE Preferred NP_055178.3:p.Asp3273ValfsTer20
NM_001278055.2:c.9377_9390del VV NP_001264984.1:p.Asp3126ValfsTer20
ENST00000382292.7:c.9818_9831del ENSP00000371729.3:p.Asp3273ValfsTer20
ENST00000382298.7:c.9818_9831del ENSP00000371735.3:p.Asp3273ValfsTer20
ENST00000402364.1:c.7568_7581del ENSP00000385844.1:p.Asp2523ValfsTer20
ENST00000423156.1:n.1058-4574_1058-4561del ENSP00000390925.1:p.=
ENST00000455470.5:n.2130-4574_2130-4561del