Canonical Allele Identifier: CA928525864

Gene: PCDH15

Linked Data

• dbSNP Id: rs1841152355
• gnomAD v3: 10-53806311-C-CAAAA
• gnomAD v4: 10-53806311-C-CAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806313_53806316dup , CM000672.2:g.53806313_53806316dup	GRCh38
NC_000010.10:g.55566073_55566076dup , CM000672.1:g.55566073_55566076dup	GRCh37
NC_000010.9:g.55236079_55236082dup	NCBI36
NG_009191.2:g.999977_999980dup
NG_009191.3:g.1827868_1827871dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644397.2:c.*264_*267dup MANE Select	ENSP00000495195.1:n.*264_*267dup
ENST00000373965.6:c.*264_*267dup	ENSP00000363076.3:n.*264_*267dup
ENST00000414778.5:c.*264_*267dup	ENSP00000410304.2:n.*264_*267dup
ENST00000614895.4:c.*264_*267dup	ENSP00000478512.1:n.*264_*267dup
ENST00000616114.4:c.*264_*267dup	ENSP00000483745.1:n.*264_*267dup
NM_001142771.1:c.*264_*267dup	NP_001136243.1:n.*264_*267dup
NM_001142772.1:c.*264_*267dup	NP_001136244.1:n.*264_*267dup
NM_001354420.1:c.*264_*267dup	NP_001341349.1:n.*264_*267dup
NM_001354429.1:c.*264_*267dup	NP_001341358.1:n.*264_*267dup
XR_001747192.2:n.11779_11782dup
XR_001747193.2:n.11770_11773dup
NM_001142771.2:c.*264_*267dup	NP_001136243.1:n.*264_*267dup
NM_001142772.2:c.*264_*267dup	NP_001136244.1:n.*264_*267dup
NM_001354420.2:c.*264_*267dup	NP_001341349.1:n.*264_*267dup
NM_001354429.2:c.*264_*267dup	NP_001341358.1:n.*264_*267dup
NM_001384140.1:c.*264_*267dup MANE Select	NP_001371069.1:n.*264_*267dup