LDH info

Canonical Allele Identifier: CA16041366
Gene: PCDH15 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371453
ClinVar RCV Id: RCV000409420
dbSNP Id: rs1057517284

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53959831del , CM000672.2:g.53959831del GRCh38
NC_000010.10:g.55719591del , CM000672.1:g.55719591del GRCh37
NC_000010.9:g.55389597del NCBI36
NG_009191.2:g.846461del
NG_009191.3:g.1674352del

Transcript Alleles

HGVS Amino-acid change
NM_001142763.1:c.3038del VV NP_001136235.1:p.Ala1013ValfsTer8
NM_001142764.1:c.3023del VV NP_001136236.1:p.Ala1008ValfsTer8
NM_001142765.1:c.2810del VV NP_001136237.1:p.Ala937ValfsTer8
NM_001142766.1:c.3023del VV NP_001136238.1:p.Ala1008ValfsTer8
NM_001142767.1:c.2912del VV NP_001136239.1:p.Ala971ValfsTer8
NM_001142768.1:c.2957del VV NP_001136240.1:p.Ala986ValfsTer8
NM_001142769.1:c.3059del VV NP_001136241.1:p.Ala1020ValfsTer8
NM_001142770.1:c.3023del VV NP_001136242.1:p.Ala1008ValfsTer8
NM_001142771.1:c.3038del VV NP_001136243.1:p.Ala1013ValfsTer8
NM_001142772.1:c.3023del VV NP_001136244.1:p.Ala1008ValfsTer8
NM_001142773.1:c.2957del VV NP_001136245.1:p.Ala986ValfsTer8
NM_033056.3:c.3023del VV NP_149045.3:p.Ala1008ValfsTer8
NM_001142769.2:c.3059del VV NP_001136241.1:p.Ala1020ValfsTer8
NM_001142770.2:c.3023del VV NP_001136242.1:p.Ala1008ValfsTer8
NM_001354404.1:c.2957del VV NP_001341333.1:p.Ala986ValfsTer8
NM_001354411.1:c.3044del VV NP_001341340.1:p.Ala1015ValfsTer8
NM_001354420.1:c.3023del VV NP_001341349.1:p.Ala1008ValfsTer8
NM_001354429.1:c.3023del VV NP_001341358.1:p.Ala1008ValfsTer8
XM_017016573.2:c.3038del XP_016872062.1:p.Ala1013ValfsTer8
XR_001747192.2:n.4036del
XR_001747193.2:n.4036del
NM_001142763.2:c.3038del VV NP_001136235.1:p.Ala1013ValfsTer8
NM_001142764.2:c.3023del VV NP_001136236.1:p.Ala1008ValfsTer8
NM_001142765.2:c.2810del VV NP_001136237.1:p.Ala937ValfsTer8
NM_001142766.2:c.3023del VV NP_001136238.1:p.Ala1008ValfsTer8
NM_001142768.2:c.2957del VV NP_001136240.1:p.Ala986ValfsTer8
NM_001142769.3:c.3059del VV NP_001136241.1:p.Ala1020ValfsTer8
NM_001142770.3:c.3023del VV NP_001136242.1:p.Ala1008ValfsTer8
NM_001142771.2:c.3038del VV NP_001136243.1:p.Ala1013ValfsTer8
NM_001142772.2:c.3023del VV NP_001136244.1:p.Ala1008ValfsTer8
NM_001142773.2:c.2957del VV NP_001136245.1:p.Ala986ValfsTer8
NM_001354411.2:c.3044del VV NP_001341340.1:p.Ala1015ValfsTer8
NM_001354420.2:c.3023del VV NP_001341349.1:p.Ala1008ValfsTer8
NM_001354429.2:c.3023del VV NP_001341358.1:p.Ala1008ValfsTer8
NM_033056.4:c.3023del VV NP_149045.3:p.Ala1008ValfsTer8
ENST00000320301.10:c.3023del ENSP00000322604.6:p.Ala1008ValfsTer8
ENST00000361849.7:c.3023del ENSP00000354950.3:p.Ala1008ValfsTer8
ENST00000373956.7:c.*978del ENSP00000363067.4:p.=
ENST00000373957.7:c.3038del ENSP00000363068.4:p.Ala1013ValfsTer8
ENST00000373965.6:c.3023del ENSP00000363076.3:p.Ala1008ValfsTer8
ENST00000395430.5:c.3023del ENSP00000378818.1:p.Ala1008ValfsTer8
ENST00000395432.6:c.2912del ENSP00000378820.2:p.Ala971ValfsTer8
ENST00000395433.5:c.2957del ENSP00000378821.1:p.Ala986ValfsTer8
ENST00000395438.5:c.3023del ENSP00000378826.2:p.Ala1008ValfsTer8
ENST00000395440.5:c.1306-150285del ENSP00000378827.1:p.=
ENST00000395442.5:c.1099-150285del ENSP00000378829.1:p.=
ENST00000395445.5:c.3044del ENSP00000378832.2:p.Ala1015ValfsTer8
ENST00000395446.5:c.2091+119500del ENSP00000378833.1:p.=
ENST00000409834.5:c.1856del ENSP00000386693.1:p.Ala619ValfsTer8
ENST00000414367.5:c.877-119335del ENSP00000412531.1:p.=
ENST00000414778.5:c.3023del ENSP00000410304.2:p.Ala1008ValfsTer8
ENST00000437009.5:c.2810del ENSP00000412628.2:p.Ala937ValfsTer8
ENST00000448885.5:c.*978del ENSP00000412320.1:p.=
ENST00000495484.5:c.-24-102568del ENSP00000480780.1:p.=
ENST00000612394.4:c.3059del ENSP00000482921.1:p.Ala1020ValfsTer8
ENST00000613657.4:c.3059del ENSP00000482794.1:p.Ala1020ValfsTer8
ENST00000614895.4:c.3038del ENSP00000478512.1:p.Ala1013ValfsTer8
ENST00000616114.4:c.3023del ENSP00000483745.1:p.Ala1008ValfsTer8
ENST00000617051.4:c.3038del ENSP00000484703.1:p.Ala1013ValfsTer8
ENST00000617271.4:c.3023del ENSP00000478076.1:p.Ala1008ValfsTer8
ENST00000621708.4:c.3038del ENSP00000484454.1:p.Ala1013ValfsTer8
ENST00000622048.4:c.2810del ENSP00000482329.1:p.Ala937ValfsTer8