Canonical Allele Identifier: CA1910754823
Gene: PCDH15 HGNC NCBI

Linked Data

dbSNP Id: rs1453746088

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53806215_53806218dup , CM000672.2:g.53806215_53806218dup GRCh38
NC_000010.10:g.55565975_55565978dup , CM000672.1:g.55565975_55565978dup GRCh37
NC_000010.9:g.55235981_55235984dup NCBI36
NG_009191.2:g.1000075_1000078dup
NG_009191.3:g.1827966_1827969dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000644397.2:c.*362_*365dup MANE Select ENSP00000495195.1:n.*362_*365dup
ENST00000373965.6:c.*362_*365dup ENSP00000363076.3:n.*362_*365dup
ENST00000414778.5:c.*362_*365dup ENSP00000410304.2:n.*362_*365dup
ENST00000614895.4:c.*362_*365dup ENSP00000478512.1:n.*362_*365dup
ENST00000616114.4:c.*362_*365dup ENSP00000483745.1:n.*362_*365dup
NM_001142771.1:c.*362_*365dup NP_001136243.1:n.*362_*365dup
NM_001142772.1:c.*362_*365dup NP_001136244.1:n.*362_*365dup
NM_001354420.1:c.*362_*365dup NP_001341349.1:n.*362_*365dup
NM_001354429.1:c.*362_*365dup NP_001341358.1:n.*362_*365dup
XR_001747192.2:n.11877_11880dup
XR_001747193.2:n.11868_11871dup
NM_001142771.2:c.*362_*365dup NP_001136243.1:n.*362_*365dup
NM_001142772.2:c.*362_*365dup NP_001136244.1:n.*362_*365dup
NM_001354420.2:c.*362_*365dup NP_001341349.1:n.*362_*365dup
NM_001354429.2:c.*362_*365dup NP_001341358.1:n.*362_*365dup
NM_001384140.1:c.*362_*365dup MANE Select NP_001371069.1:n.*362_*365dup