Canonical Allele Identifier: CA918676841

Gene: PCDH15

Linked Data

• dbSNP Id: rs1554814511
• gnomAD v4: 10-53806369-A-AGTATGTCCAAAAGGATTTTCTGG

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806371_53806393dup , CM000672.2:g.53806371_53806393dup	GRCh38
NC_000010.10:g.55566131_55566153dup , CM000672.1:g.55566131_55566153dup	GRCh37
NC_000010.9:g.55236137_55236159dup	NCBI36
NG_009191.2:g.999900_999922dup
NG_009191.3:g.1827791_1827813dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642496.1:c.4269_4291dup
ENST00000644397.2:c.*187_*209dup MANE Select	ENSP00000495195.1:n.*187_*209dup
ENST00000373965.6:c.*187_*209dup	ENSP00000363076.3:n.*187_*209dup
ENST00000414778.5:c.*187_*209dup	ENSP00000410304.2:n.*187_*209dup
ENST00000495484.5:c.*187_*209dup	ENSP00000480780.1:n.*187_*209dup
ENST00000614895.4:c.*187_*209dup	ENSP00000478512.1:n.*187_*209dup
ENST00000616114.4:c.*187_*209dup	ENSP00000483745.1:n.*187_*209dup
ENST00000621708.4:c.*187_*209dup	ENSP00000484454.1:n.*187_*209dup
NM_001142771.1:c.*187_*209dup	NP_001136243.1:n.*187_*209dup
NM_001142772.1:c.*187_*209dup	NP_001136244.1:n.*187_*209dup
NM_001354420.1:c.*187_*209dup	NP_001341349.1:n.*187_*209dup
NM_001354429.1:c.*187_*209dup	NP_001341358.1:n.*187_*209dup
XR_001747192.2:n.11702_11724dup
XR_001747193.2:n.11693_11715dup
NM_001142771.2:c.*187_*209dup	NP_001136243.1:n.*187_*209dup
NM_001142772.2:c.*187_*209dup	NP_001136244.1:n.*187_*209dup
NM_001354420.2:c.*187_*209dup	NP_001341349.1:n.*187_*209dup
NM_001354429.2:c.*187_*209dup	NP_001341358.1:n.*187_*209dup
NM_001384140.1:c.*187_*209dup MANE Select	NP_001371069.1:n.*187_*209dup