LDH info

Canonical Allele Identifier: CA16041658
Gene: SACS HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370878
ClinVar RCV Id: RCV000409439
dbSNP Id: rs1057516837

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23375263del , CM000675.2:g.23375263del GRCh38
NC_000013.10:g.23949402del , CM000675.1:g.23949402del GRCh37
NC_000013.9:g.22847402del NCBI36
NG_012342.1:g.63442del

Transcript Alleles

HGVS Amino-acid change
NM_001278055.1:c.-325del VV NP_001264984.1:p.=
NM_014363.5:c.29del VV NP_055178.3:p.Pro10ArgfsTer2
XM_005266338.1:c.29del XP_005266395.1:p.Pro10ArgfsTer2
XM_011535038.1:c.53del XP_011533340.1:p.Pro18ArgfsTer2
XM_011535039.1:c.20del XP_011533341.1:p.Pro7ArgfsTer2
XM_005266338.2:c.29del XP_005266395.1:p.Pro10ArgfsTer2
XM_011535039.2:c.20del XP_011533341.1:p.Pro7ArgfsTer2
XM_017020539.1:c.20del XP_016876028.1:p.Pro7ArgfsTer2
XM_024449337.1:c.29del XP_024305105.1:p.Pro10ArgfsTer2
NM_014363.6:c.29del VV MANE Preferred NP_055178.3:p.Pro10ArgfsTer2
NM_001278055.2:c.-325del VV NP_001264984.1:p.=
ENST00000382292.7:c.29del ENSP00000371729.3:p.Pro10ArgfsTer2
ENST00000382298.7:c.29del ENSP00000371735.3:p.Pro10ArgfsTer2
ENST00000402364.1:c.-2134del ENSP00000385844.1:p.=