Canonical Allele Identifier: CA2788034343
Gene: PCDH15 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53806258_53806259insAGA , CM000672.2:g.53806258_53806259insAGA GRCh38
NC_000010.10:g.55566018_55566019insAGA , CM000672.1:g.55566018_55566019insAGA GRCh37
NC_000010.9:g.55236024_55236025insAGA NCBI36
NG_009191.2:g.1000033_1000034insTCT
NG_009191.3:g.1827924_1827925insTCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000644397.2:c.*320_*321insTCT MANE Select ENSP00000495195.1:n.*320_*321insTCT
ENST00000373965.6:c.*320_*321insTCT ENSP00000363076.3:n.*320_*321insTCT
ENST00000414778.5:c.*320_*321insTCT ENSP00000410304.2:n.*320_*321insTCT
ENST00000614895.4:c.*320_*321insTCT ENSP00000478512.1:n.*320_*321insTCT
ENST00000616114.4:c.*320_*321insTCT ENSP00000483745.1:n.*320_*321insTCT
NM_001142771.1:c.*320_*321insTCT NP_001136243.1:n.*320_*321insTCT
NM_001142772.1:c.*320_*321insTCT NP_001136244.1:n.*320_*321insTCT
NM_001354420.1:c.*320_*321insTCT NP_001341349.1:n.*320_*321insTCT
NM_001354429.1:c.*320_*321insTCT NP_001341358.1:n.*320_*321insTCT
XR_001747192.2:n.11835_11836insTCT
XR_001747193.2:n.11826_11827insTCT
NM_001142771.2:c.*320_*321insTCT NP_001136243.1:n.*320_*321insTCT
NM_001142772.2:c.*320_*321insTCT NP_001136244.1:n.*320_*321insTCT
NM_001354420.2:c.*320_*321insTCT NP_001341349.1:n.*320_*321insTCT
NM_001354429.2:c.*320_*321insTCT NP_001341358.1:n.*320_*321insTCT
NM_001384140.1:c.*320_*321insTCT MANE Select NP_001371069.1:n.*320_*321insTCT