Canonical Allele Identifier: CA253342
Gene: PCDH15 HGNC NCBI

Linked Data

ClinVar Variation Id: 4932
ClinVar RCV Id: RCV000005217 RCV001198734 RCV001381510
dbSNP Id: rs199469706
gnomAD v4: 10-54213945-CA-C
MyVariant Identifiers: chr10:g.55973708del (hg19) chr10:g.54213948del (hg38)
PubMed: PMID:11487575 PMID:22981120
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.54213948del , CM000672.2:g.54213948del GRCh38
NC_000010.10:g.55973708del , CM000672.1:g.55973708del GRCh37
NC_000010.9:g.55643714del NCBI36
NG_009191.2:g.592346del
NG_009191.3:g.1420237del

Transcript Alleles

HGVS Amino-acid change
ENST00000613657.6:c.1103del ENSP00000482794.1:p.Leu368TrpfsTer?
ENST00000320301.11:c.1088del MANE Plus Clinical ENSP00000322604.6:p.Leu363TrpfsTer?
ENST00000395445.6:c.1088del ENSP00000378832.2:p.Leu363TrpfsTer?
ENST00000613657.5:c.1103del ENSP00000482794.1:p.Leu368TrpfsTer?
ENST00000644397.2:c.1088del MANE Select ENSP00000495195.1:p.Leu363TrpfsTer?
ENST00000320301.10:c.1088del ENSP00000322604.6:p.Leu363TrpfsTer?
ENST00000361849.7:c.1088del ENSP00000354950.3:p.Leu363TrpfsTer?
ENST00000373955.5:c.1088del ENSP00000363066.1:p.Leu363TrpfsTer?
ENST00000373956.7:c.1088del ENSP00000363067.4:p.Leu363TrpfsTer?
ENST00000373957.7:c.1103del ENSP00000363068.4:p.Leu368TrpfsTer?
ENST00000373965.6:c.1088del ENSP00000363076.3:p.Leu363TrpfsTer?
ENST00000395430.5:c.1088del ENSP00000378818.1:p.Leu363TrpfsTer?
ENST00000395432.6:c.977del ENSP00000378820.2:p.Leu326TrpfsTer?
ENST00000395433.5:c.1022del ENSP00000378821.1:p.Leu341TrpfsTer?
ENST00000395438.5:c.1088del ENSP00000378826.2:p.Leu363TrpfsTer?
ENST00000395440.5:c.1088del ENSP00000378827.1:p.Leu363TrpfsTer?
ENST00000395442.5:c.1088del ENSP00000378829.1:p.Leu363TrpfsTer26
ENST00000395445.5:c.1088del ENSP00000378832.2:p.Leu363TrpfsTer?
ENST00000395446.5:c.1088del ENSP00000378833.1:p.Leu363TrpfsTer?
ENST00000409834.5:c.-90-18057del ENSP00000386693.1:n.-90-18057del
ENST00000414367.5:c.876+103325del ENSP00000412531.1:n.876+103325del
ENST00000414778.5:c.1088del ENSP00000410304.2:p.Leu363TrpfsTer?
ENST00000437009.5:c.1088del ENSP00000412628.2:p.Leu363TrpfsTer?
ENST00000448885.5:c.1088del ENSP00000412320.1:p.Leu363TrpfsTer?
ENST00000495484.5:c.-24-356683del ENSP00000480780.1:n.-24-356683del
ENST00000612394.4:c.1103del ENSP00000482921.1:p.Leu368TrpfsTer?
ENST00000613657.4:c.1103del ENSP00000482794.1:p.Leu368TrpfsTer?
ENST00000614895.4:c.1103del ENSP00000478512.1:p.Leu368TrpfsTer?
ENST00000616114.4:c.1088del ENSP00000483745.1:p.Leu363TrpfsTer?
ENST00000617051.4:c.1103del ENSP00000484703.1:p.Leu368TrpfsTer?
ENST00000617271.4:c.1088del ENSP00000478076.1:p.Leu363TrpfsTer?
ENST00000621708.4:c.1103del ENSP00000484454.1:p.Leu368TrpfsTer?
ENST00000622048.4:c.1088del ENSP00000482329.1:p.Leu363TrpfsTer?
NM_001142763.1:c.1103del NP_001136235.1:p.Leu368TrpfsTer?
NM_001142764.1:c.1088del NP_001136236.1:p.Leu363TrpfsTer?
NM_001142765.1:c.1088del NP_001136237.1:p.Leu363TrpfsTer?
NM_001142766.1:c.1088del NP_001136238.1:p.Leu363TrpfsTer?
NM_001142767.1:c.977del NP_001136239.1:p.Leu326TrpfsTer?
NM_001142768.1:c.1022del NP_001136240.1:p.Leu341TrpfsTer?
NM_001142769.1:c.1103del NP_001136241.1:p.Leu368TrpfsTer?
NM_001142770.1:c.1088del NP_001136242.1:p.Leu363TrpfsTer?
NM_001142771.1:c.1103del NP_001136243.1:p.Leu368TrpfsTer?
NM_001142772.1:c.1088del NP_001136244.1:p.Leu363TrpfsTer?
NM_001142773.1:c.1022del NP_001136245.1:p.Leu341TrpfsTer?
NM_033056.3:c.1088del NP_149045.3:p.Leu363TrpfsTer?
NM_001142769.2:c.1103del NP_001136241.1:p.Leu368TrpfsTer?
NM_001142770.2:c.1088del NP_001136242.1:p.Leu363TrpfsTer?
NM_001354404.1:c.1022del NP_001341333.1:p.Leu341TrpfsTer?
NM_001354411.1:c.1088del NP_001341340.1:p.Leu363TrpfsTer?
NM_001354420.1:c.1088del NP_001341349.1:p.Leu363TrpfsTer?
NM_001354429.1:c.1088del NP_001341358.1:p.Leu363TrpfsTer?
NM_001354430.1:c.1088del NP_001341359.1:p.Leu363TrpfsTer?
XM_017016573.2:c.1103del XP_016872062.1:p.Leu368TrpfsTer?
XR_001747192.2:n.2101del
XR_001747193.2:n.2101del
NM_001142763.2:c.1103del NP_001136235.1:p.Leu368TrpfsTer?
NM_001142764.2:c.1088del NP_001136236.1:p.Leu363TrpfsTer?
NM_001142765.2:c.1088del NP_001136237.1:p.Leu363TrpfsTer?
NM_001142766.2:c.1088del NP_001136238.1:p.Leu363TrpfsTer?
NM_001142768.2:c.1022del NP_001136240.1:p.Leu341TrpfsTer?
NM_001142769.3:c.1103del NP_001136241.1:p.Leu368TrpfsTer?
NM_001142770.3:c.1088del NP_001136242.1:p.Leu363TrpfsTer?
NM_001142771.2:c.1103del NP_001136243.1:p.Leu368TrpfsTer?
NM_001142772.2:c.1088del NP_001136244.1:p.Leu363TrpfsTer?
NM_001142773.2:c.1022del NP_001136245.1:p.Leu341TrpfsTer?
NM_001354411.2:c.1088del NP_001341340.1:p.Leu363TrpfsTer?
NM_001354420.2:c.1088del NP_001341349.1:p.Leu363TrpfsTer?
NM_001354429.2:c.1088del NP_001341358.1:p.Leu363TrpfsTer?
NM_001354430.2:c.1088del NP_001341359.1:p.Leu363TrpfsTer?
NM_033056.4:c.1088del MANE Plus Clinical NP_149045.3:p.Leu363TrpfsTer?
NM_001142767.2:c.977del NP_001136239.1:p.Leu326TrpfsTer?
NM_001354404.2:c.1022del NP_001341333.1:p.Leu341TrpfsTer?
NM_001384140.1:c.1088del MANE Select NP_001371069.1:p.Leu363TrpfsTer?
Search 100 bp 5'
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