LDH info

Canonical Allele Identifier: CA16615404
Gene: CDH1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 406628
ClinVar RCV Id: RCV000468989
dbSNP Id: rs1060501224

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68822184_68822185del , CM000678.2:g.68822184_68822185del GRCh38
NC_000016.9:g.68856087_68856088del , CM000678.1:g.68856087_68856088del GRCh37
NC_000016.8:g.67413588_67413589del NCBI36
NG_008021.1:g.89893_89894del , LRG_301:g.89893_89894del

Transcript Alleles

HGVS Amino-acid change
NM_004360.3:c.1895_1896del , LRG_301t1:c.1895_1896del NP_004351.1:p.His632ArgfsTer30
XM_011523488.1:c.1160_1161del XP_011521790.1:p.His387ArgfsTer30
XM_011523489.1:c.1160_1161del XP_011521791.1:p.His387ArgfsTer30
NM_001317184.1:c.1712_1713del VV NP_001304113.1:p.His571ArgfsTer30
NM_001317185.1:c.347_348del VV NP_001304114.1:p.His116ArgfsTer30
NM_001317186.1:c.-71_-70del VV NP_001304115.1:p.=
NM_004360.4:c.1895_1896del VV NP_004351.1:p.His632ArgfsTer30
NM_004360.5:c.1895_1896del VV MANE Preferred NP_004351.1:p.His632ArgfsTer30
NM_001317184.2:c.1712_1713del VV NP_001304113.1:p.His571ArgfsTer30
NM_001317185.2:c.347_348del VV NP_001304114.1:p.His116ArgfsTer30
NM_001317186.2:c.-71_-70del VV NP_001304115.1:p.=
ENST00000261769.9:c.1895_1896del ENSP00000261769.4:p.His632ArgfsTer30
ENST00000422392.6:c.1712_1713del ENSP00000414946.2:p.His571ArgfsTer30
ENST00000562836.5:n.1966_1967del
ENST00000566510.5:c.*561_*562del ENSP00000458139.1:p.=
ENST00000566612.5:c.*135_*136del ENSP00000454782.1:p.=
ENST00000611625.4:c.1958_1959del ENSP00000481063.1:p.His653ArgfsTer30
ENST00000612417.4:c.1830+65_1830+66del ENSP00000478360.1:p.=
ENST00000621016.4:c.1865+30_1865+31del ENSP00000480664.1:p.=