LDH info

Canonical Allele Identifier: CA10580116
Gene: CDH1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 231528
dbSNP Id: rs876659208

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68815670_68815671del , CM000678.2:g.68815670_68815671del GRCh38
NC_000016.9:g.68849573_68849574del , CM000678.1:g.68849573_68849574del GRCh37
NC_000016.8:g.67407074_67407075del NCBI36
NG_008021.1:g.83379_83380del , LRG_301:g.83379_83380del

Transcript Alleles

HGVS Amino-acid change
NM_004360.3:c.1476_1477del , LRG_301t1:c.1476_1477del NP_004351.1:p.Arg492SerfsTer?
XM_011523488.1:c.741_742del XP_011521790.1:p.Arg247SerfsTer?
XM_011523489.1:c.741_742del XP_011521791.1:p.Arg247SerfsTer?
NM_001317184.1:c.1293_1294del VV NP_001304113.1:p.Arg431SerfsTer?
NM_001317185.1:c.-73_-72del VV NP_001304114.1:p.=
NM_001317186.1:c.-344_-343del VV NP_001304115.1:p.=
NM_004360.4:c.1476_1477del VV NP_004351.1:p.Arg492SerfsTer?
NM_004360.5:c.1476_1477del VV MANE Preferred NP_004351.1:p.Arg492SerfsTer?
ENST00000261769.9:c.1476_1477del ENSP00000261769.4:p.Arg492SerfsTer?
ENST00000422392.6:c.1293_1294del ENSP00000414946.2:p.Arg431SerfsTer?
ENST00000562836.5:n.1547_1548del
ENST00000566510.5:c.*142_*143del ENSP00000458139.1:p.=
ENST00000566612.5:c.1476_1477del ENSP00000454782.1:p.Arg492SerfsTer?
ENST00000611625.4:c.1539_1540del ENSP00000481063.1:p.Arg513SerfsTer?
ENST00000612417.4:c.1476_1477del ENSP00000478360.1:p.Arg492SerfsTer?
ENST00000621016.4:c.1476_1477del ENSP00000480664.1:p.Arg492SerfsTer?