Canonical Allele Identifier: CA2788034300
Gene: PCDH15 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53806223_53806224insACA , CM000672.2:g.53806223_53806224insACA GRCh38
NC_000010.10:g.55565983_55565984insACA , CM000672.1:g.55565983_55565984insACA GRCh37
NC_000010.9:g.55235989_55235990insACA NCBI36
NG_009191.2:g.1000068_1000069insTGT
NG_009191.3:g.1827959_1827960insTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000644397.2:c.*355_*356insTGT MANE Select ENSP00000495195.1:n.*355_*356insTGT
ENST00000373965.6:c.*355_*356insTGT ENSP00000363076.3:n.*355_*356insTGT
ENST00000414778.5:c.*355_*356insTGT ENSP00000410304.2:n.*355_*356insTGT
ENST00000614895.4:c.*355_*356insTGT ENSP00000478512.1:n.*355_*356insTGT
ENST00000616114.4:c.*355_*356insTGT ENSP00000483745.1:n.*355_*356insTGT
NM_001142771.1:c.*355_*356insTGT NP_001136243.1:n.*355_*356insTGT
NM_001142772.1:c.*355_*356insTGT NP_001136244.1:n.*355_*356insTGT
NM_001354420.1:c.*355_*356insTGT NP_001341349.1:n.*355_*356insTGT
NM_001354429.1:c.*355_*356insTGT NP_001341358.1:n.*355_*356insTGT
XR_001747192.2:n.11870_11871insTGT
XR_001747193.2:n.11861_11862insTGT
NM_001142771.2:c.*355_*356insTGT NP_001136243.1:n.*355_*356insTGT
NM_001142772.2:c.*355_*356insTGT NP_001136244.1:n.*355_*356insTGT
NM_001354420.2:c.*355_*356insTGT NP_001341349.1:n.*355_*356insTGT
NM_001354429.2:c.*355_*356insTGT NP_001341358.1:n.*355_*356insTGT
NM_001384140.1:c.*355_*356insTGT MANE Select NP_001371069.1:n.*355_*356insTGT