Canonical Allele Identifier: CA666450402
Gene: PCDH15 HGNC NCBI

Linked Data

dbSNP Id: rs1204508243

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53806426_53806429dup , CM000672.2:g.53806426_53806429dup GRCh38
NC_000010.10:g.55566186_55566189dup , CM000672.1:g.55566186_55566189dup GRCh37
NC_000010.9:g.55236192_55236195dup NCBI36
NG_009191.2:g.999863_999866dup
NG_009191.3:g.1827754_1827757dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000642496.1:c.4232_4235dup
ENST00000644397.2:c.*150_*153dup MANE Select ENSP00000495195.1:n.*150_*153dup
ENST00000373965.6:c.*150_*153dup ENSP00000363076.3:n.*150_*153dup
ENST00000414778.5:c.*150_*153dup ENSP00000410304.2:n.*150_*153dup
ENST00000495484.5:c.*150_*153dup ENSP00000480780.1:n.*150_*153dup
ENST00000614895.4:c.*150_*153dup ENSP00000478512.1:n.*150_*153dup
ENST00000616114.4:c.*150_*153dup ENSP00000483745.1:n.*150_*153dup
ENST00000621708.4:c.*150_*153dup ENSP00000484454.1:n.*150_*153dup
NM_001142771.1:c.*150_*153dup NP_001136243.1:n.*150_*153dup
NM_001142772.1:c.*150_*153dup NP_001136244.1:n.*150_*153dup
NM_001354420.1:c.*150_*153dup NP_001341349.1:n.*150_*153dup
NM_001354429.1:c.*150_*153dup NP_001341358.1:n.*150_*153dup
XR_001747192.2:n.11665_11668dup
XR_001747193.2:n.11656_11659dup
NM_001142771.2:c.*150_*153dup NP_001136243.1:n.*150_*153dup
NM_001142772.2:c.*150_*153dup NP_001136244.1:n.*150_*153dup
NM_001354420.2:c.*150_*153dup NP_001341349.1:n.*150_*153dup
NM_001354429.2:c.*150_*153dup NP_001341358.1:n.*150_*153dup
NM_001384140.1:c.*150_*153dup MANE Select NP_001371069.1:n.*150_*153dup