Canonical Allele Identifier: CA2788034326
Gene: PCDH15 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53806252_53806258del , CM000672.2:g.53806252_53806258del GRCh38
NC_000010.10:g.55566012_55566018del , CM000672.1:g.55566012_55566018del GRCh37
NC_000010.9:g.55236018_55236024del NCBI36
NG_009191.2:g.1000034_1000040del
NG_009191.3:g.1827925_1827931del

Transcript Alleles

HGVS Amino-acid Change
ENST00000644397.2:c.*321_*327del MANE Select ENSP00000495195.1:n.*321_*327del
ENST00000373965.6:c.*321_*327del ENSP00000363076.3:n.*321_*327del
ENST00000414778.5:c.*321_*327del ENSP00000410304.2:n.*321_*327del
ENST00000614895.4:c.*321_*327del ENSP00000478512.1:n.*321_*327del
ENST00000616114.4:c.*321_*327del ENSP00000483745.1:n.*321_*327del
NM_001142771.1:c.*321_*327del NP_001136243.1:n.*321_*327del
NM_001142772.1:c.*321_*327del NP_001136244.1:n.*321_*327del
NM_001354420.1:c.*321_*327del NP_001341349.1:n.*321_*327del
NM_001354429.1:c.*321_*327del NP_001341358.1:n.*321_*327del
XR_001747192.2:n.11836_11842del
XR_001747193.2:n.11827_11833del
NM_001142771.2:c.*321_*327del NP_001136243.1:n.*321_*327del
NM_001142772.2:c.*321_*327del NP_001136244.1:n.*321_*327del
NM_001354420.2:c.*321_*327del NP_001341349.1:n.*321_*327del
NM_001354429.2:c.*321_*327del NP_001341358.1:n.*321_*327del
NM_001384140.1:c.*321_*327del MANE Select NP_001371069.1:n.*321_*327del