Canonical Allele Identifier: CA2788034394
Gene: PCDH15 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53806317_53806327del , CM000672.2:g.53806317_53806327del GRCh38
NC_000010.10:g.55566077_55566087del , CM000672.1:g.55566077_55566087del GRCh37
NC_000010.9:g.55236083_55236093del NCBI36
NG_009191.2:g.999966_999976del
NG_009191.3:g.1827857_1827867del

Transcript Alleles

HGVS Amino-acid Change
ENST00000644397.2:c.*253_*263del MANE Select ENSP00000495195.1:n.*253_*263del
ENST00000373965.6:c.*253_*263del ENSP00000363076.3:n.*253_*263del
ENST00000414778.5:c.*253_*263del ENSP00000410304.2:n.*253_*263del
ENST00000614895.4:c.*253_*263del ENSP00000478512.1:n.*253_*263del
ENST00000616114.4:c.*253_*263del ENSP00000483745.1:n.*253_*263del
NM_001142771.1:c.*253_*263del NP_001136243.1:n.*253_*263del
NM_001142772.1:c.*253_*263del NP_001136244.1:n.*253_*263del
NM_001354420.1:c.*253_*263del NP_001341349.1:n.*253_*263del
NM_001354429.1:c.*253_*263del NP_001341358.1:n.*253_*263del
XR_001747192.2:n.11768_11778del
XR_001747193.2:n.11759_11769del
NM_001142771.2:c.*253_*263del NP_001136243.1:n.*253_*263del
NM_001142772.2:c.*253_*263del NP_001136244.1:n.*253_*263del
NM_001354420.2:c.*253_*263del NP_001341349.1:n.*253_*263del
NM_001354429.2:c.*253_*263del NP_001341358.1:n.*253_*263del
NM_001384140.1:c.*253_*263del MANE Select NP_001371069.1:n.*253_*263del