Canonical Allele Identifier: CA1910754975

Gene: PCDH15

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806290_53806293delinsTTTC , CM000672.2:g.53806290_53806293delinsTTTC	GRCh38
NC_000010.10:g.55566050_55566053delinsTTTC , CM000672.1:g.55566050_55566053delinsTTTC	GRCh37
NC_000010.9:g.55236056_55236059delinsTTTC	NCBI36
NG_009191.2:g.999999_1000002delinsGAAA
NG_009191.3:g.1827890_1827893delinsGAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644397.2:c.*286_*289delinsGAAA MANE Select	ENSP00000495195.1:n.*286_*289delinsGAAA
ENST00000373965.6:c.*286_*289delinsGAAA	ENSP00000363076.3:n.*286_*289delinsGAAA
ENST00000414778.5:c.*286_*289delinsGAAA	ENSP00000410304.2:n.*286_*289delinsGAAA
ENST00000614895.4:c.*286_*289delinsGAAA	ENSP00000478512.1:n.*286_*289delinsGAAA
ENST00000616114.4:c.*286_*289delinsGAAA	ENSP00000483745.1:n.*286_*289delinsGAAA
NM_001142771.1:c.*286_*289delinsGAAA	NP_001136243.1:n.*286_*289delinsGAAA
NM_001142772.1:c.*286_*289delinsGAAA	NP_001136244.1:n.*286_*289delinsGAAA
NM_001354420.1:c.*286_*289delinsGAAA	NP_001341349.1:n.*286_*289delinsGAAA
NM_001354429.1:c.*286_*289delinsGAAA	NP_001341358.1:n.*286_*289delinsGAAA
XR_001747192.2:n.11801_11804delinsGAAA
XR_001747193.2:n.11792_11795delinsGAAA
NM_001142771.2:c.*286_*289delinsGAAA	NP_001136243.1:n.*286_*289delinsGAAA
NM_001142772.2:c.*286_*289delinsGAAA	NP_001136244.1:n.*286_*289delinsGAAA
NM_001354420.2:c.*286_*289delinsGAAA	NP_001341349.1:n.*286_*289delinsGAAA
NM_001354429.2:c.*286_*289delinsGAAA	NP_001341358.1:n.*286_*289delinsGAAA
NM_001384140.1:c.*286_*289delinsGAAA MANE Select	NP_001371069.1:n.*286_*289delinsGAAA