Canonical Allele Identifier: CA666450148
Gene: PCDH15 HGNC NCBI

Linked Data

dbSNP Id: rs1204008174

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53806176_53806177del , CM000672.2:g.53806176_53806177del GRCh38
NC_000010.10:g.55565936_55565937del , CM000672.1:g.55565936_55565937del GRCh37
NC_000010.9:g.55235942_55235943del NCBI36
NG_009191.2:g.1000119_1000120del
NG_009191.3:g.1828010_1828011del

Transcript Alleles

HGVS Amino-acid Change
ENST00000644397.2:c.*406_*407del MANE Select ENSP00000495195.1:n.*406_*407del
ENST00000373965.6:c.*406_*407del ENSP00000363076.3:n.*406_*407del
ENST00000414778.5:c.*406_*407del ENSP00000410304.2:n.*406_*407del
ENST00000614895.4:c.*406_*407del ENSP00000478512.1:n.*406_*407del
ENST00000616114.4:c.*406_*407del ENSP00000483745.1:n.*406_*407del
NM_001142771.1:c.*406_*407del NP_001136243.1:n.*406_*407del
NM_001142772.1:c.*406_*407del NP_001136244.1:n.*406_*407del
NM_001354420.1:c.*406_*407del NP_001341349.1:n.*406_*407del
NM_001354429.1:c.*406_*407del NP_001341358.1:n.*406_*407del
XR_001747192.2:n.11921_11922del
XR_001747193.2:n.11912_11913del
NM_001142771.2:c.*406_*407del NP_001136243.1:n.*406_*407del
NM_001142772.2:c.*406_*407del NP_001136244.1:n.*406_*407del
NM_001354420.2:c.*406_*407del NP_001341349.1:n.*406_*407del
NM_001354429.2:c.*406_*407del NP_001341358.1:n.*406_*407del
NM_001384140.1:c.*406_*407del MANE Select NP_001371069.1:n.*406_*407del