Canonical Allele Identifier: CA2609218278
Gene: PCDH15 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53806500_53806502del , CM000672.2:g.53806500_53806502del GRCh38
NC_000010.10:g.55566260_55566262del , CM000672.1:g.55566260_55566262del GRCh37
NC_000010.9:g.55236266_55236268del NCBI36
NG_009191.2:g.999792_999794del
NG_009191.3:g.1827683_1827685del

Transcript Alleles

HGVS Amino-acid Change
ENST00000642496.1:c.4161_4163del
ENST00000644397.2:c.*79_*81del MANE Select ENSP00000495195.1:n.*79_*81del
ENST00000373965.6:c.*79_*81del ENSP00000363076.3:n.*79_*81del
ENST00000414778.5:c.*79_*81del ENSP00000410304.2:n.*79_*81del
ENST00000495484.5:c.*79_*81del ENSP00000480780.1:n.*79_*81del
ENST00000614895.4:c.*79_*81del ENSP00000478512.1:n.*79_*81del
ENST00000616114.4:c.*79_*81del ENSP00000483745.1:n.*79_*81del
ENST00000621708.4:c.*79_*81del ENSP00000484454.1:n.*79_*81del
NM_001142771.1:c.*79_*81del NP_001136243.1:n.*79_*81del
NM_001142772.1:c.*79_*81del NP_001136244.1:n.*79_*81del
NM_001354420.1:c.*79_*81del NP_001341349.1:n.*79_*81del
NM_001354429.1:c.*79_*81del NP_001341358.1:n.*79_*81del
XR_001747192.2:n.11594_11596del
XR_001747193.2:n.11585_11587del
NM_001142771.2:c.*79_*81del NP_001136243.1:n.*79_*81del
NM_001142772.2:c.*79_*81del NP_001136244.1:n.*79_*81del
NM_001354420.2:c.*79_*81del NP_001341349.1:n.*79_*81del
NM_001354429.2:c.*79_*81del NP_001341358.1:n.*79_*81del
NM_001384140.1:c.*79_*81del MANE Select NP_001371069.1:n.*79_*81del