LDH info

Canonical Allele Identifier: CA281459
Gene: CDH1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 156497
dbSNP Id: rs587783048

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68829756del , CM000678.2:g.68829756del GRCh38
NC_000016.9:g.68863659del , CM000678.1:g.68863659del GRCh37
NC_000016.8:g.67421160del NCBI36
NG_008021.1:g.97465del , LRG_301:g.97465del

Transcript Alleles

HGVS Amino-acid change
NM_004360.3:c.2398del , LRG_301t1:c.2398del NP_004351.1:p.Arg800AlafsTer16
XM_011523488.1:c.1663del XP_011521790.1:p.Arg555AlafsTer16
XM_011523489.1:c.1663del XP_011521791.1:p.Arg555AlafsTer16
NM_001317184.1:c.2215del VV NP_001304113.1:p.Arg739AlafsTer16
NM_001317185.1:c.850del VV NP_001304114.1:p.Arg284AlafsTer16
NM_001317186.1:c.433del VV NP_001304115.1:p.Arg145AlafsTer16
NM_004360.4:c.2398del VV NP_004351.1:p.Arg800AlafsTer16
NM_004360.5:c.2398del VV MANE Preferred NP_004351.1:p.Arg800AlafsTer16
ENST00000261769.9:c.2398del ENSP00000261769.4:p.Arg800AlafsTer16
ENST00000422392.6:c.2215del ENSP00000414946.2:p.Arg739AlafsTer16
ENST00000562118.1:n.616del
ENST00000562836.5:n.2469del
ENST00000566510.5:c.*1064del ENSP00000458139.1:p.=
ENST00000566612.5:c.*638del ENSP00000454782.1:p.=
ENST00000611625.4:c.2461del ENSP00000481063.1:p.Arg821AlafsTer16
ENST00000612417.4:c.1853+3202del ENSP00000478360.1:p.=
ENST00000621016.4:c.1866-4447del ENSP00000480664.1:p.=