Canonical Allele Identifier: CA666450390

Gene: PCDH15

Linked Data

• dbSNP Id: rs1192377711
• gnomAD v3: 10-53806404-A-AATTG
• gnomAD v4: 10-53806404-A-AATTG
• MyVariant Identifiers: chr10:g.55566164_55566165insATTG (hg19) ; chr10:g.53806404_53806405insATTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806407_53806410dup , CM000672.2:g.53806407_53806410dup	GRCh38
NC_000010.10:g.55566167_55566170dup , CM000672.1:g.55566167_55566170dup	GRCh37
NC_000010.9:g.55236173_55236176dup	NCBI36
NG_009191.2:g.999884_999887dup
NG_009191.3:g.1827775_1827778dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642496.1:c.4253_4256dup
ENST00000644397.2:c.*171_*174dup MANE Select	ENSP00000495195.1:n.*171_*174dup
ENST00000373965.6:c.*171_*174dup	ENSP00000363076.3:n.*171_*174dup
ENST00000414778.5:c.*171_*174dup	ENSP00000410304.2:n.*171_*174dup
ENST00000495484.5:c.*171_*174dup	ENSP00000480780.1:n.*171_*174dup
ENST00000614895.4:c.*171_*174dup	ENSP00000478512.1:n.*171_*174dup
ENST00000616114.4:c.*171_*174dup	ENSP00000483745.1:n.*171_*174dup
ENST00000621708.4:c.*171_*174dup	ENSP00000484454.1:n.*171_*174dup
NM_001142771.1:c.*171_*174dup	NP_001136243.1:n.*171_*174dup
NM_001142772.1:c.*171_*174dup	NP_001136244.1:n.*171_*174dup
NM_001354420.1:c.*171_*174dup	NP_001341349.1:n.*171_*174dup
NM_001354429.1:c.*171_*174dup	NP_001341358.1:n.*171_*174dup
XR_001747192.2:n.11686_11689dup
XR_001747193.2:n.11677_11680dup
NM_001142771.2:c.*171_*174dup	NP_001136243.1:n.*171_*174dup
NM_001142772.2:c.*171_*174dup	NP_001136244.1:n.*171_*174dup
NM_001354420.2:c.*171_*174dup	NP_001341349.1:n.*171_*174dup
NM_001354429.2:c.*171_*174dup	NP_001341358.1:n.*171_*174dup
NM_001384140.1:c.*171_*174dup MANE Select	NP_001371069.1:n.*171_*174dup