LDH info

Canonical Allele Identifier: CA10580117
Gene: CDH1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 229907
dbSNP Id: rs876658261

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68815682_68815688del , CM000678.2:g.68815682_68815688del GRCh38
NC_000016.9:g.68849585_68849591del , CM000678.1:g.68849585_68849591del GRCh37
NC_000016.8:g.67407086_67407092del NCBI36
NG_008021.1:g.83391_83397del , LRG_301:g.83391_83397del

Transcript Alleles

HGVS Amino-acid change
NM_004360.3:c.1488_1494del , LRG_301t1:c.1488_1494del NP_004351.1:p.Glu497LeufsTer23
XM_011523488.1:c.753_759del XP_011521790.1:p.Glu252LeufsTer23
XM_011523489.1:c.753_759del XP_011521791.1:p.Glu252LeufsTer23
NM_001317184.1:c.1305_1311del VV NP_001304113.1:p.Glu436LeufsTer23
NM_001317185.1:c.-61_-55del VV NP_001304114.1:p.=
NM_001317186.1:c.-332_-326del VV NP_001304115.1:p.=
NM_004360.4:c.1488_1494del VV NP_004351.1:p.Glu497LeufsTer23
NM_004360.5:c.1488_1494del VV MANE Preferred NP_004351.1:p.Glu497LeufsTer23
ENST00000261769.9:c.1488_1494del ENSP00000261769.4:p.Glu497LeufsTer23
ENST00000422392.6:c.1305_1311del ENSP00000414946.2:p.Glu436LeufsTer23
ENST00000562836.5:n.1559_1565del
ENST00000566510.5:c.*154_*160del ENSP00000458139.1:p.=
ENST00000566612.5:c.1488_1494del ENSP00000454782.1:p.Glu497LeufsTer23
ENST00000611625.4:c.1551_1557del ENSP00000481063.1:p.Glu518LeufsTer23
ENST00000612417.4:c.1488_1494del ENSP00000478360.1:p.Glu497LeufsTer23
ENST00000621016.4:c.1488_1494del ENSP00000480664.1:p.Glu497LeufsTer23