Canonical Allele Identifier: CA2788034385
Gene: PCDH15 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53806298_53806299insACC , CM000672.2:g.53806298_53806299insACC GRCh38
NC_000010.10:g.55566058_55566059insACC , CM000672.1:g.55566058_55566059insACC GRCh37
NC_000010.9:g.55236064_55236065insACC NCBI36
NG_009191.2:g.999993_999994insGGT
NG_009191.3:g.1827884_1827885insGGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000644397.2:c.*280_*281insGGT MANE Select ENSP00000495195.1:n.*280_*281insGGT
ENST00000373965.6:c.*280_*281insGGT ENSP00000363076.3:n.*280_*281insGGT
ENST00000414778.5:c.*280_*281insGGT ENSP00000410304.2:n.*280_*281insGGT
ENST00000614895.4:c.*280_*281insGGT ENSP00000478512.1:n.*280_*281insGGT
ENST00000616114.4:c.*280_*281insGGT ENSP00000483745.1:n.*280_*281insGGT
NM_001142771.1:c.*280_*281insGGT NP_001136243.1:n.*280_*281insGGT
NM_001142772.1:c.*280_*281insGGT NP_001136244.1:n.*280_*281insGGT
NM_001354420.1:c.*280_*281insGGT NP_001341349.1:n.*280_*281insGGT
NM_001354429.1:c.*280_*281insGGT NP_001341358.1:n.*280_*281insGGT
XR_001747192.2:n.11795_11796insGGT
XR_001747193.2:n.11786_11787insGGT
NM_001142771.2:c.*280_*281insGGT NP_001136243.1:n.*280_*281insGGT
NM_001142772.2:c.*280_*281insGGT NP_001136244.1:n.*280_*281insGGT
NM_001354420.2:c.*280_*281insGGT NP_001341349.1:n.*280_*281insGGT
NM_001354429.2:c.*280_*281insGGT NP_001341358.1:n.*280_*281insGGT
NM_001384140.1:c.*280_*281insGGT MANE Select NP_001371069.1:n.*280_*281insGGT