LDH info

Canonical Allele Identifier: CA16041653
Gene: SACS HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370271
ClinVar RCV Id: RCV000411818
dbSNP Id: rs1057516365

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23355384_23355385del , CM000675.2:g.23355384_23355385del GRCh38
NC_000013.10:g.23929523_23929524del , CM000675.1:g.23929523_23929524del GRCh37
NC_000013.9:g.22827523_22827524del NCBI36
NG_012342.1:g.83319_83320del

Transcript Alleles

HGVS Amino-acid change
NM_001278055.1:c.787_788del VV NP_001264984.1:p.Leu263SerfsTer2
NM_014363.5:c.1228_1229del VV NP_055178.3:p.Leu410SerfsTer2
XM_005266338.1:c.1228_1229del XP_005266395.1:p.Leu410SerfsTer2
XM_011535038.1:c.1252_1253del XP_011533340.1:p.Leu418SerfsTer2
XM_011535039.1:c.1219_1220del XP_011533341.1:p.Leu407SerfsTer2
XM_005266338.2:c.1228_1229del XP_005266395.1:p.Leu410SerfsTer2
XM_011535039.2:c.1219_1220del XP_011533341.1:p.Leu407SerfsTer2
XM_017020539.1:c.1219_1220del XP_016876028.1:p.Leu407SerfsTer2
XM_024449337.1:c.1228_1229del XP_024305105.1:p.Leu410SerfsTer2
NM_014363.6:c.1228_1229del VV MANE Preferred NP_055178.3:p.Leu410SerfsTer2
NM_001278055.2:c.787_788del VV NP_001264984.1:p.Leu263SerfsTer2
ENST00000382292.7:c.1228_1229del ENSP00000371729.3:p.Leu410SerfsTer2
ENST00000382298.7:c.1228_1229del ENSP00000371735.3:p.Leu410SerfsTer2
ENST00000402364.1:c.-1023_-1022del ENSP00000385844.1:p.=
ENST00000423156.1:n.100_101del ENSP00000390925.1:p.Leu34SerfsTer2
ENST00000455470.5:n.926_927del