Canonical Allele Identifier: CA2788034359
Gene: PCDH15 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53806280_53806281insA , CM000672.2:g.53806280_53806281insA GRCh38
NC_000010.10:g.55566040_55566041insA , CM000672.1:g.55566040_55566041insA GRCh37
NC_000010.9:g.55236046_55236047insA NCBI36
NG_009191.2:g.1000011_1000012insT
NG_009191.3:g.1827902_1827903insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000644397.2:c.*298_*299insT MANE Select ENSP00000495195.1:n.*298_*299insT
ENST00000373965.6:c.*298_*299insT ENSP00000363076.3:n.*298_*299insT
ENST00000414778.5:c.*298_*299insT ENSP00000410304.2:n.*298_*299insT
ENST00000614895.4:c.*298_*299insT ENSP00000478512.1:n.*298_*299insT
ENST00000616114.4:c.*298_*299insT ENSP00000483745.1:n.*298_*299insT
NM_001142771.1:c.*298_*299insT NP_001136243.1:n.*298_*299insT
NM_001142772.1:c.*298_*299insT NP_001136244.1:n.*298_*299insT
NM_001354420.1:c.*298_*299insT NP_001341349.1:n.*298_*299insT
NM_001354429.1:c.*298_*299insT NP_001341358.1:n.*298_*299insT
XR_001747192.2:n.11813_11814insT
XR_001747193.2:n.11804_11805insT
NM_001142771.2:c.*298_*299insT NP_001136243.1:n.*298_*299insT
NM_001142772.2:c.*298_*299insT NP_001136244.1:n.*298_*299insT
NM_001354420.2:c.*298_*299insT NP_001341349.1:n.*298_*299insT
NM_001354429.2:c.*298_*299insT NP_001341358.1:n.*298_*299insT
NM_001384140.1:c.*298_*299insT MANE Select NP_001371069.1:n.*298_*299insT