Canonical Allele Identifier: CA2609218128

Gene: PCDH15

Linked Data

• gnomAD v4: 10-53806255-T-TAATCA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806257_53806261dup , CM000672.2:g.53806257_53806261dup	GRCh38
NC_000010.10:g.55566017_55566021dup , CM000672.1:g.55566017_55566021dup	GRCh37
NC_000010.9:g.55236023_55236027dup	NCBI36
NG_009191.2:g.1000032_1000036dup
NG_009191.3:g.1827923_1827927dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644397.2:c.*319_*323dup MANE Select	ENSP00000495195.1:n.*319_*323dup
ENST00000373965.6:c.*319_*323dup	ENSP00000363076.3:n.*319_*323dup
ENST00000414778.5:c.*319_*323dup	ENSP00000410304.2:n.*319_*323dup
ENST00000614895.4:c.*319_*323dup	ENSP00000478512.1:n.*319_*323dup
ENST00000616114.4:c.*319_*323dup	ENSP00000483745.1:n.*319_*323dup
NM_001142771.1:c.*319_*323dup	NP_001136243.1:n.*319_*323dup
NM_001142772.1:c.*319_*323dup	NP_001136244.1:n.*319_*323dup
NM_001354420.1:c.*319_*323dup	NP_001341349.1:n.*319_*323dup
NM_001354429.1:c.*319_*323dup	NP_001341358.1:n.*319_*323dup
XR_001747192.2:n.11834_11838dup
XR_001747193.2:n.11825_11829dup
NM_001142771.2:c.*319_*323dup	NP_001136243.1:n.*319_*323dup
NM_001142772.2:c.*319_*323dup	NP_001136244.1:n.*319_*323dup
NM_001354420.2:c.*319_*323dup	NP_001341349.1:n.*319_*323dup
NM_001354429.2:c.*319_*323dup	NP_001341358.1:n.*319_*323dup
NM_001384140.1:c.*319_*323dup MANE Select	NP_001371069.1:n.*319_*323dup