Canonical Allele Identifier: CA207195197

Gene: PCDH15

Linked Data

• dbSNP Id: rs747806858
• gnomAD v3: 10-53806325-C-CCAA
• gnomAD v4: 10-53806325-C-CCAA
• MyVariant Identifiers: chr10:g.55566085_55566086insCAA (hg19) ; chr10:g.53806325_53806326insCAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806329_53806331dup , CM000672.2:g.53806329_53806331dup	GRCh38
NC_000010.10:g.55566089_55566091dup , CM000672.1:g.55566089_55566091dup	GRCh37
NC_000010.9:g.55236095_55236097dup	NCBI36
NG_009191.2:g.999964_999966dup
NG_009191.3:g.1827855_1827857dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644397.2:c.*251_*253dup MANE Select	ENSP00000495195.1:n.*251_*253dup
ENST00000373965.6:c.*251_*253dup	ENSP00000363076.3:n.*251_*253dup
ENST00000414778.5:c.*251_*253dup	ENSP00000410304.2:n.*251_*253dup
ENST00000495484.5:c.*251_*253dup	ENSP00000480780.1:n.*251_*253dup
ENST00000614895.4:c.*251_*253dup	ENSP00000478512.1:n.*251_*253dup
ENST00000616114.4:c.*251_*253dup	ENSP00000483745.1:n.*251_*253dup
ENST00000621708.4:c.*251_*253dup	ENSP00000484454.1:n.*251_*253dup
NM_001142771.1:c.*251_*253dup	NP_001136243.1:n.*251_*253dup
NM_001142772.1:c.*251_*253dup	NP_001136244.1:n.*251_*253dup
NM_001354420.1:c.*251_*253dup	NP_001341349.1:n.*251_*253dup
NM_001354429.1:c.*251_*253dup	NP_001341358.1:n.*251_*253dup
XR_001747192.2:n.11766_11768dup
XR_001747193.2:n.11757_11759dup
NM_001142771.2:c.*251_*253dup	NP_001136243.1:n.*251_*253dup
NM_001142772.2:c.*251_*253dup	NP_001136244.1:n.*251_*253dup
NM_001354420.2:c.*251_*253dup	NP_001341349.1:n.*251_*253dup
NM_001354429.2:c.*251_*253dup	NP_001341358.1:n.*251_*253dup
NM_001384140.1:c.*251_*253dup MANE Select	NP_001371069.1:n.*251_*253dup