Canonical Allele Identifier: CA207194895

Gene: PCDH15

Linked Data

• dbSNP Id: rs569905861
• gnomAD v3: 10-53806163-T-TCTTA
• gnomAD v4: 10-53806163-T-TCTTA
• MyVariant Identifiers: chr10:g.55565923_55565924insCTTA (hg19) ; chr10:g.53806163_53806164insCTTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806167_53806170dup , CM000672.2:g.53806167_53806170dup	GRCh38
NC_000010.10:g.55565927_55565930dup , CM000672.1:g.55565927_55565930dup	GRCh37
NC_000010.9:g.55235933_55235936dup	NCBI36
NG_009191.2:g.1000125_1000128dup
NG_009191.3:g.1828016_1828019dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644397.2:c.*412_*415dup MANE Select	ENSP00000495195.1:n.*412_*415dup
ENST00000373965.6:c.*412_*415dup	ENSP00000363076.3:n.*412_*415dup
ENST00000414778.5:c.*412_*415dup	ENSP00000410304.2:n.*412_*415dup
ENST00000614895.4:c.*412_*415dup	ENSP00000478512.1:n.*412_*415dup
ENST00000616114.4:c.*412_*415dup	ENSP00000483745.1:n.*412_*415dup
NM_001142771.1:c.*412_*415dup	NP_001136243.1:n.*412_*415dup
NM_001142772.1:c.*412_*415dup	NP_001136244.1:n.*412_*415dup
NM_001354420.1:c.*412_*415dup	NP_001341349.1:n.*412_*415dup
NM_001354429.1:c.*412_*415dup	NP_001341358.1:n.*412_*415dup
XR_001747192.2:n.11927_11930dup
XR_001747193.2:n.11918_11921dup
NM_001142771.2:c.*412_*415dup	NP_001136243.1:n.*412_*415dup
NM_001142772.2:c.*412_*415dup	NP_001136244.1:n.*412_*415dup
NM_001354420.2:c.*412_*415dup	NP_001341349.1:n.*412_*415dup
NM_001354429.2:c.*412_*415dup	NP_001341358.1:n.*412_*415dup
NM_001384140.1:c.*412_*415dup MANE Select	NP_001371069.1:n.*412_*415dup