Canonical Allele Identifier: CA666450795

Gene: PCDH15

Linked Data

• dbSNP Id: rs757650846
• gnomAD v3: 10-53806645-C-CTGTG
• gnomAD v4: 10-53806645-C-CTGTG
• MyVariant Identifiers: chr10:g.55566405_55566406insTGTG (hg19) ; chr10:g.53806645_53806646insTGTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806650_53806653dup , CM000672.2:g.53806650_53806653dup	GRCh38
NC_000010.10:g.55566410_55566413dup , CM000672.1:g.55566410_55566413dup	GRCh37
NC_000010.9:g.55236416_55236419dup	NCBI36
NG_009191.2:g.999643_999646dup
NG_009191.3:g.1827534_1827537dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642496.1:c.4012_4015dup
ENST00000644397.2:c.5153_5156dup MANE Select	ENSP00000495195.1:p.Gln1719HisfsTer4
ENST00000373965.6:c.4964_4967dup	ENSP00000363076.3:p.Gln1656HisfsTer4
ENST00000414778.5:c.4961_4964dup	ENSP00000410304.2:p.Gln1655HisfsTer4
ENST00000495484.5:c.1181_1184dup	ENSP00000480780.1:p.Gln395HisfsTer4
ENST00000614895.4:c.4976_4979dup	ENSP00000478512.1:p.Gln1660HisfsTer4
ENST00000616114.4:c.4958_4961dup	ENSP00000483745.1:p.Gln1654HisfsTer4
ENST00000618301.4:c.1313_1316dup	ENSP00000482780.1:p.Gln439HisfsTer4
ENST00000621708.4:c.4979_4982dup	ENSP00000484454.1:p.Gln1661HisfsTer4
NM_001142771.1:c.4979_4982dup	NP_001136243.1:p.Gln1661HisfsTer4
NM_001142772.1:c.4964_4967dup	NP_001136244.1:p.Gln1656HisfsTer4
NM_001354420.1:c.4958_4961dup	NP_001341349.1:p.Gln1654HisfsTer4
NM_001354429.1:c.5087_5090dup	NP_001341358.1:p.Gln1697HisfsTer4
XR_001747192.2:n.11445_11448dup
XR_001747193.2:n.11436_11439dup
NM_001142771.2:c.4979_4982dup	NP_001136243.1:p.Gln1661HisfsTer4
NM_001142772.2:c.4964_4967dup	NP_001136244.1:p.Gln1656HisfsTer4
NM_001354420.2:c.4958_4961dup	NP_001341349.1:p.Gln1654HisfsTer4
NM_001354429.2:c.5087_5090dup	NP_001341358.1:p.Gln1697HisfsTer4
NM_001384140.1:c.5153_5156dup MANE Select	NP_001371069.1:p.Gln1719HisfsTer4