Canonical Allele Identifier: CA928591742

Gene: PCDH15

Linked Data

• dbSNP Id: rs1954641484
• gnomAD v3: 10-54901648-CACAG-C
• gnomAD v4: 10-54901648-CACAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.54901650_54901653del , CM000672.2:g.54901650_54901653del	GRCh38
NC_000010.10:g.56661410_56661413del , CM000672.1:g.56661410_56661413del	GRCh37
NC_000010.9:g.56331416_56331419del	NCBI36
NG_009191.3:g.732531_732534del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000458638.1:c.-79-4152_-79-4149del	ENSP00000394465.1:n.-79-4152_-79-4149del
ENST00000613346.4:c.-79-4152_-79-4149del	ENSP00000481211.1:n.-79-4152_-79-4149del
NM_001354404.1:c.-79-4152_-79-4149del	NP_001341333.1:n.-79-4152_-79-4149del
XM_017016573.2:c.-79-4152_-79-4149del	XP_016872062.1:n.-79-4152_-79-4149del
NM_001354404.2:c.-79-4152_-79-4149del	NP_001341333.1:n.-79-4152_-79-4149del