Canonical Allele Identifier: CA2527129863
Gene: PCDH15 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53806287_53806320del , CM000672.2:g.53806287_53806320del GRCh38
NC_000010.10:g.55566047_55566080del , CM000672.1:g.55566047_55566080del GRCh37
NC_000010.9:g.55236053_55236086del NCBI36
NG_009191.2:g.999973_1000006del
NG_009191.3:g.1827864_1827897del

Transcript Alleles

HGVS Amino-acid Change
ENST00000644397.2:c.*260_*293del MANE Select ENSP00000495195.1:n.*260_*293del
ENST00000373965.6:c.*260_*293del ENSP00000363076.3:n.*260_*293del
ENST00000414778.5:c.*260_*293del ENSP00000410304.2:n.*260_*293del
ENST00000614895.4:c.*260_*293del ENSP00000478512.1:n.*260_*293del
ENST00000616114.4:c.*260_*293del ENSP00000483745.1:n.*260_*293del
NM_001142771.1:c.*260_*293del NP_001136243.1:n.*260_*293del
NM_001142772.1:c.*260_*293del NP_001136244.1:n.*260_*293del
NM_001354420.1:c.*260_*293del NP_001341349.1:n.*260_*293del
NM_001354429.1:c.*260_*293del NP_001341358.1:n.*260_*293del
XR_001747192.2:n.11775_11808del
XR_001747193.2:n.11766_11799del
NM_001142771.2:c.*260_*293del NP_001136243.1:n.*260_*293del
NM_001142772.2:c.*260_*293del NP_001136244.1:n.*260_*293del
NM_001354420.2:c.*260_*293del NP_001341349.1:n.*260_*293del
NM_001354429.2:c.*260_*293del NP_001341358.1:n.*260_*293del
NM_001384140.1:c.*260_*293del MANE Select NP_001371069.1:n.*260_*293del