Canonical Allele Identifier: CA2609218199
Gene: PCDH15 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53806388dup , CM000672.2:g.53806388dup GRCh38
NC_000010.10:g.55566148dup , CM000672.1:g.55566148dup GRCh37
NC_000010.9:g.55236154dup NCBI36
NG_009191.2:g.999907dup
NG_009191.3:g.1827798dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000642496.1:c.4276dup
ENST00000644397.2:c.*194dup MANE Select ENSP00000495195.1:n.*194dup
ENST00000373965.6:c.*194dup ENSP00000363076.3:n.*194dup
ENST00000414778.5:c.*194dup ENSP00000410304.2:n.*194dup
ENST00000495484.5:c.*194dup ENSP00000480780.1:n.*194dup
ENST00000614895.4:c.*194dup ENSP00000478512.1:n.*194dup
ENST00000616114.4:c.*194dup ENSP00000483745.1:n.*194dup
ENST00000621708.4:c.*194dup ENSP00000484454.1:n.*194dup
NM_001142771.1:c.*194dup NP_001136243.1:n.*194dup
NM_001142772.1:c.*194dup NP_001136244.1:n.*194dup
NM_001354420.1:c.*194dup NP_001341349.1:n.*194dup
NM_001354429.1:c.*194dup NP_001341358.1:n.*194dup
XR_001747192.2:n.11709dup
XR_001747193.2:n.11700dup
NM_001142771.2:c.*194dup NP_001136243.1:n.*194dup
NM_001142772.2:c.*194dup NP_001136244.1:n.*194dup
NM_001354420.2:c.*194dup NP_001341349.1:n.*194dup
NM_001354429.2:c.*194dup NP_001341358.1:n.*194dup
NM_001384140.1:c.*194dup MANE Select NP_001371069.1:n.*194dup