Canonical Allele Identifier: CA666450142

Gene: PCDH15

Linked Data

• dbSNP Id: rs1183898047
• gnomAD v4: 10-53806167-ACTT-A
• MyVariant Identifiers: chr10:g.55565928_55565930del (hg19) ; chr10:g.53806168_53806170del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806171_53806173del , CM000672.2:g.53806171_53806173del	GRCh38
NC_000010.10:g.55565931_55565933del , CM000672.1:g.55565931_55565933del	GRCh37
NC_000010.9:g.55235937_55235939del	NCBI36
NG_009191.2:g.1000122_1000124del
NG_009191.3:g.1828013_1828015del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644397.2:c.*409_*411del MANE Select	ENSP00000495195.1:n.*409_*411del
ENST00000373965.6:c.*409_*411del	ENSP00000363076.3:n.*409_*411del
ENST00000414778.5:c.*409_*411del	ENSP00000410304.2:n.*409_*411del
ENST00000614895.4:c.*409_*411del	ENSP00000478512.1:n.*409_*411del
ENST00000616114.4:c.*409_*411del	ENSP00000483745.1:n.*409_*411del
NM_001142771.1:c.*409_*411del	NP_001136243.1:n.*409_*411del
NM_001142772.1:c.*409_*411del	NP_001136244.1:n.*409_*411del
NM_001354420.1:c.*409_*411del	NP_001341349.1:n.*409_*411del
NM_001354429.1:c.*409_*411del	NP_001341358.1:n.*409_*411del
XR_001747192.2:n.11924_11926del
XR_001747193.2:n.11915_11917del
NM_001142771.2:c.*409_*411del	NP_001136243.1:n.*409_*411del
NM_001142772.2:c.*409_*411del	NP_001136244.1:n.*409_*411del
NM_001354420.2:c.*409_*411del	NP_001341349.1:n.*409_*411del
NM_001354429.2:c.*409_*411del	NP_001341358.1:n.*409_*411del
NM_001384140.1:c.*409_*411del MANE Select	NP_001371069.1:n.*409_*411del