Canonical Allele Identifier: CA5504523

Gene: PCDH15

Linked Data

• dbSNP Id: rs768755545
• ExAC: 10:55566496 CTT / C
• gnomAD v4: 10-53806736-CTT-C
• MyVariant Identifiers: chr10:g.55566497_55566498del (hg19) ; chr10:g.53806737_53806738del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806737_53806738del , CM000672.2:g.53806737_53806738del	GRCh38
NC_000010.10:g.55566497_55566498del , CM000672.1:g.55566497_55566498del	GRCh37
NC_000010.9:g.55236503_55236504del	NCBI36
NG_009191.2:g.999554_999555del
NG_009191.3:g.1827445_1827446del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642496.1:c.3923_3924del
ENST00000644397.2:c.5064_5065del MANE Select	ENSP00000495195.1:p.Arg1689GlufsTer8
ENST00000373965.6:c.4875_4876del	ENSP00000363076.3:p.Arg1626GlufsTer8
ENST00000414778.5:c.4872_4873del	ENSP00000410304.2:p.Arg1625GlufsTer8
ENST00000495484.5:c.1092_1093del	ENSP00000480780.1:p.Arg365GlufsTer8
ENST00000614895.4:c.4887_4888del	ENSP00000478512.1:p.Arg1630GlufsTer8
ENST00000616114.4:c.4869_4870del	ENSP00000483745.1:p.Arg1624GlufsTer8
ENST00000618301.4:c.1224_1225del	ENSP00000482780.1:p.Arg409GlufsTer8
ENST00000621708.4:c.4890_4891del	ENSP00000484454.1:p.Arg1631GlufsTer8
NM_001142771.1:c.4890_4891del	NP_001136243.1:p.Arg1631GlufsTer8
NM_001142772.1:c.4875_4876del	NP_001136244.1:p.Arg1626GlufsTer8
NM_001354420.1:c.4869_4870del	NP_001341349.1:p.Arg1624GlufsTer8
NM_001354429.1:c.4998_4999del	NP_001341358.1:p.Arg1667GlufsTer8
XR_001747192.2:n.11356_11357del
XR_001747193.2:n.11347_11348del
NM_001142771.2:c.4890_4891del	NP_001136243.1:p.Arg1631GlufsTer8
NM_001142772.2:c.4875_4876del	NP_001136244.1:p.Arg1626GlufsTer8
NM_001354420.2:c.4869_4870del	NP_001341349.1:p.Arg1624GlufsTer8
NM_001354429.2:c.4998_4999del	NP_001341358.1:p.Arg1667GlufsTer8
NM_001384140.1:c.5064_5065del MANE Select	NP_001371069.1:p.Arg1689GlufsTer8