LDH info

Canonical Allele Identifier: CA16041615
Gene: SACS HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371116
ClinVar RCV Id: RCV000409838
dbSNP Id: rs1057517020

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23335143_23335144del , CM000675.2:g.23335143_23335144del GRCh38
NC_000013.10:g.23909282_23909283del , CM000675.1:g.23909282_23909283del GRCh37
NC_000013.9:g.22807282_22807283del NCBI36
NG_012342.1:g.103560_103561del

Transcript Alleles

HGVS Amino-acid change
NM_001278055.1:c.8292_8293del VV NP_001264984.1:p.Asn2764LysfsTer13
NM_014363.5:c.8733_8734del VV NP_055178.3:p.Asn2911LysfsTer13
XM_005266338.1:c.8760_8761del XP_005266395.1:p.Asn2920LysfsTer13
XM_011535038.1:c.8784_8785del XP_011533340.1:p.Asn2928LysfsTer13
XM_011535039.1:c.8751_8752del XP_011533341.1:p.Asn2917LysfsTer13
XM_005266338.2:c.8760_8761del XP_005266395.1:p.Asn2920LysfsTer13
XM_011535039.2:c.8751_8752del XP_011533341.1:p.Asn2917LysfsTer13
XM_017020539.1:c.8724_8725del XP_016876028.1:p.Asn2908LysfsTer13
XM_024449337.1:c.8760_8761del XP_024305105.1:p.Asn2920LysfsTer13
NM_014363.6:c.8733_8734del VV MANE Preferred NP_055178.3:p.Asn2911LysfsTer13
NM_001278055.2:c.8292_8293del VV NP_001264984.1:p.Asn2764LysfsTer13
ENST00000382292.7:c.8733_8734del ENSP00000371729.3:p.Asn2911LysfsTer13
ENST00000382298.7:c.8733_8734del ENSP00000371735.3:p.Asn2911LysfsTer13
ENST00000402364.1:c.6483_6484del ENSP00000385844.1:p.Asn2161LysfsTer13
ENST00000423156.1:n.1058-5659_1058-5658del ENSP00000390925.1:p.=
ENST00000455470.5:n.2130-5659_2130-5658del