Canonical Allele Identifier: CA928525902

Gene: PCDH15

Linked Data

• dbSNP Id: rs1841169039
• gnomAD v3: 10-53806506-TCA-T
• gnomAD v4: 10-53806506-TCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806507_53806508del , CM000672.2:g.53806507_53806508del	GRCh38
NC_000010.10:g.55566267_55566268del , CM000672.1:g.55566267_55566268del	GRCh37
NC_000010.9:g.55236273_55236274del	NCBI36
NG_009191.2:g.999784_999785del
NG_009191.3:g.1827675_1827676del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642496.1:c.4153_4154del
ENST00000644397.2:c.*71_*72del MANE Select	ENSP00000495195.1:n.*71_*72del
ENST00000373965.6:c.*71_*72del	ENSP00000363076.3:n.*71_*72del
ENST00000414778.5:c.*71_*72del	ENSP00000410304.2:n.*71_*72del
ENST00000495484.5:c.*71_*72del	ENSP00000480780.1:n.*71_*72del
ENST00000614895.4:c.*71_*72del	ENSP00000478512.1:n.*71_*72del
ENST00000616114.4:c.*71_*72del	ENSP00000483745.1:n.*71_*72del
ENST00000618301.4:c.1454_1455del	ENSP00000482780.1:n.1454_1455del
ENST00000621708.4:c.*71_*72del	ENSP00000484454.1:n.*71_*72del
NM_001142771.1:c.*71_*72del	NP_001136243.1:n.*71_*72del
NM_001142772.1:c.*71_*72del	NP_001136244.1:n.*71_*72del
NM_001354420.1:c.*71_*72del	NP_001341349.1:n.*71_*72del
NM_001354429.1:c.*71_*72del	NP_001341358.1:n.*71_*72del
XR_001747192.2:n.11586_11587del
XR_001747193.2:n.11577_11578del
NM_001142771.2:c.*71_*72del	NP_001136243.1:n.*71_*72del
NM_001142772.2:c.*71_*72del	NP_001136244.1:n.*71_*72del
NM_001354420.2:c.*71_*72del	NP_001341349.1:n.*71_*72del
NM_001354429.2:c.*71_*72del	NP_001341358.1:n.*71_*72del
NM_001384140.1:c.*71_*72del MANE Select	NP_001371069.1:n.*71_*72del