Canonical Allele Identifier: CA928525890

Gene: PCDH15

Linked Data

• dbSNP Id: rs1841161745
• gnomAD v3: 10-53806437-T-TCTC
• gnomAD v4: 10-53806437-T-TCTC

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806437_53806438insCTC , CM000672.2:g.53806437_53806438insCTC	GRCh38
NC_000010.10:g.55566197_55566198insCTC , CM000672.1:g.55566197_55566198insCTC	GRCh37
NC_000010.9:g.55236203_55236204insCTC	NCBI36
NG_009191.2:g.999854_999855insGAG
NG_009191.3:g.1827745_1827746insGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642496.1:c.4223_4224insGAG
ENST00000644397.2:c.*141_*142insGAG MANE Select	ENSP00000495195.1:n.*141_*142insGAG
ENST00000373965.6:c.*141_*142insGAG	ENSP00000363076.3:n.*141_*142insGAG
ENST00000414778.5:c.*141_*142insGAG	ENSP00000410304.2:n.*141_*142insGAG
ENST00000495484.5:c.*141_*142insGAG	ENSP00000480780.1:n.*141_*142insGAG
ENST00000614895.4:c.*141_*142insGAG	ENSP00000478512.1:n.*141_*142insGAG
ENST00000616114.4:c.*141_*142insGAG	ENSP00000483745.1:n.*141_*142insGAG
ENST00000621708.4:c.*141_*142insGAG	ENSP00000484454.1:n.*141_*142insGAG
NM_001142771.1:c.*141_*142insGAG	NP_001136243.1:n.*141_*142insGAG
NM_001142772.1:c.*141_*142insGAG	NP_001136244.1:n.*141_*142insGAG
NM_001354420.1:c.*141_*142insGAG	NP_001341349.1:n.*141_*142insGAG
NM_001354429.1:c.*141_*142insGAG	NP_001341358.1:n.*141_*142insGAG
XR_001747192.2:n.11656_11657insGAG
XR_001747193.2:n.11647_11648insGAG
NM_001142771.2:c.*141_*142insGAG	NP_001136243.1:n.*141_*142insGAG
NM_001142772.2:c.*141_*142insGAG	NP_001136244.1:n.*141_*142insGAG
NM_001354420.2:c.*141_*142insGAG	NP_001341349.1:n.*141_*142insGAG
NM_001354429.2:c.*141_*142insGAG	NP_001341358.1:n.*141_*142insGAG
NM_001384140.1:c.*141_*142insGAG MANE Select	NP_001371069.1:n.*141_*142insGAG