LDH info

Canonical Allele Identifier: CA16041376
Gene: PCDH15 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371153
ClinVar RCV Id: RCV000410045
dbSNP Id: rs1057517048

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.54236907dup , CM000672.2:g.54236907dup GRCh38
NC_000010.10:g.55996667dup , CM000672.1:g.55996667dup GRCh37
NC_000010.9:g.55666673dup NCBI36
NG_009191.2:g.569385dup
NG_009191.3:g.1397276dup

Transcript Alleles

HGVS Amino-acid change
NM_001142763.1:c.916dup VV NP_001136235.1:p.Thr306AsnfsTer8
NM_001142764.1:c.901dup VV NP_001136236.1:p.Thr301AsnfsTer8
NM_001142765.1:c.901dup VV NP_001136237.1:p.Thr301AsnfsTer8
NM_001142766.1:c.901dup VV NP_001136238.1:p.Thr301AsnfsTer8
NM_001142767.1:c.790dup VV NP_001136239.1:p.Thr264AsnfsTer8
NM_001142768.1:c.835dup VV NP_001136240.1:p.Thr279AsnfsTer8
NM_001142769.1:c.916dup VV NP_001136241.1:p.Thr306AsnfsTer8
NM_001142770.1:c.901dup VV NP_001136242.1:p.Thr301AsnfsTer8
NM_001142771.1:c.916dup VV NP_001136243.1:p.Thr306AsnfsTer8
NM_001142772.1:c.901dup VV NP_001136244.1:p.Thr301AsnfsTer8
NM_001142773.1:c.835dup VV NP_001136245.1:p.Thr279AsnfsTer8
NM_033056.3:c.901dup VV NP_149045.3:p.Thr301AsnfsTer8
NM_001142769.2:c.916dup VV NP_001136241.1:p.Thr306AsnfsTer8
NM_001142770.2:c.901dup VV NP_001136242.1:p.Thr301AsnfsTer8
NM_001354404.1:c.835dup VV NP_001341333.1:p.Thr279AsnfsTer8
NM_001354411.1:c.901dup VV NP_001341340.1:p.Thr301AsnfsTer8
NM_001354420.1:c.901dup VV NP_001341349.1:p.Thr301AsnfsTer8
NM_001354429.1:c.901dup VV NP_001341358.1:p.Thr301AsnfsTer8
NM_001354430.1:c.901dup VV NP_001341359.1:p.Thr301AsnfsTer8
XM_017016573.2:c.916dup XP_016872062.1:p.Thr306AsnfsTer8
XR_001747192.2:n.1914dup
XR_001747193.2:n.1914dup
NM_001142763.2:c.916dup VV NP_001136235.1:p.Thr306AsnfsTer8
NM_001142764.2:c.901dup VV NP_001136236.1:p.Thr301AsnfsTer8
NM_001142765.2:c.901dup VV NP_001136237.1:p.Thr301AsnfsTer8
NM_001142766.2:c.901dup VV NP_001136238.1:p.Thr301AsnfsTer8
NM_001142768.2:c.835dup VV NP_001136240.1:p.Thr279AsnfsTer8
NM_001142769.3:c.916dup VV NP_001136241.1:p.Thr306AsnfsTer8
NM_001142770.3:c.901dup VV NP_001136242.1:p.Thr301AsnfsTer8
NM_001142771.2:c.916dup VV NP_001136243.1:p.Thr306AsnfsTer8
NM_001142772.2:c.901dup VV NP_001136244.1:p.Thr301AsnfsTer8
NM_001142773.2:c.835dup VV NP_001136245.1:p.Thr279AsnfsTer8
NM_001354411.2:c.901dup VV NP_001341340.1:p.Thr301AsnfsTer8
NM_001354420.2:c.901dup VV NP_001341349.1:p.Thr301AsnfsTer8
NM_001354429.2:c.901dup VV NP_001341358.1:p.Thr301AsnfsTer8
NM_001354430.2:c.901dup VV NP_001341359.1:p.Thr301AsnfsTer8
NM_033056.4:c.901dup VV NP_149045.3:p.Thr301AsnfsTer8
ENST00000320301.10:c.901dup ENSP00000322604.6:p.Thr301AsnfsTer8
ENST00000361849.7:c.901dup ENSP00000354950.3:p.Thr301AsnfsTer8
ENST00000373955.5:c.901dup ENSP00000363066.1:p.Thr301AsnfsTer8
ENST00000373956.7:c.901dup ENSP00000363067.4:p.Thr301AsnfsTer8
ENST00000373957.7:c.916dup ENSP00000363068.4:p.Thr306AsnfsTer8
ENST00000373965.6:c.901dup ENSP00000363076.3:p.Thr301AsnfsTer8
ENST00000395430.5:c.901dup ENSP00000378818.1:p.Thr301AsnfsTer8
ENST00000395432.6:c.790dup ENSP00000378820.2:p.Thr264AsnfsTer8
ENST00000395433.5:c.835dup ENSP00000378821.1:p.Thr279AsnfsTer8
ENST00000395438.5:c.901dup ENSP00000378826.2:p.Thr301AsnfsTer8
ENST00000395440.5:c.901dup ENSP00000378827.1:p.Thr301AsnfsTer8
ENST00000395442.5:c.901dup ENSP00000378829.1:p.Thr301AsnfsTer8
ENST00000395445.5:c.901dup ENSP00000378832.2:p.Thr301AsnfsTer8
ENST00000395446.5:c.901dup ENSP00000378833.1:p.Thr301AsnfsTer8
ENST00000409834.5:c.-90-41018dup ENSP00000386693.1:p.=
ENST00000414367.5:c.876+80364dup ENSP00000412531.1:p.=
ENST00000414778.5:c.901dup ENSP00000410304.2:p.Thr301AsnfsTer8
ENST00000437009.5:c.901dup ENSP00000412628.2:p.Thr301AsnfsTer8
ENST00000448885.5:c.901dup ENSP00000412320.1:p.Thr301AsnfsTer8
ENST00000495484.5:c.-24-379644dup ENSP00000480780.1:p.=
ENST00000612394.4:c.916dup ENSP00000482921.1:p.Thr306AsnfsTer8
ENST00000613657.4:c.916dup ENSP00000482794.1:p.Thr306AsnfsTer8
ENST00000614895.4:c.916dup ENSP00000478512.1:p.Thr306AsnfsTer8
ENST00000616114.4:c.901dup ENSP00000483745.1:p.Thr301AsnfsTer8
ENST00000617051.4:c.916dup ENSP00000484703.1:p.Thr306AsnfsTer8
ENST00000617271.4:c.901dup ENSP00000478076.1:p.Thr301AsnfsTer8
ENST00000621708.4:c.916dup ENSP00000484454.1:p.Thr306AsnfsTer8
ENST00000622048.4:c.901dup ENSP00000482329.1:p.Thr301AsnfsTer8