Canonical Allele Identifier: CA2609218337

Gene: PCDH15

Linked Data

• gnomAD v4: 10-53806658-C-CTATGAAATTCCAAAGCCTCCTTGATGTTCT

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806661_53806690dup , CM000672.2:g.53806661_53806690dup	GRCh38
NC_000010.10:g.55566421_55566450dup , CM000672.1:g.55566421_55566450dup	GRCh37
NC_000010.9:g.55236427_55236456dup	NCBI36
NG_009191.2:g.999604_999633dup
NG_009191.3:g.1827495_1827524dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642496.1:c.3973_4002dup
ENST00000644397.2:c.5114_5143dup MANE Select	ENSP00000495195.1:p.His1714_Ser1715insLysAsnIleLysGluAlaLeuGl...
ENST00000373965.6:c.4925_4954dup	ENSP00000363076.3:p.His1651_Ser1652insLysAsnIleLysGluAlaLeuGl...
ENST00000414778.5:c.4922_4951dup	ENSP00000410304.2:p.His1650_Ser1651insLysAsnIleLysGluAlaLeuGl...
ENST00000495484.5:c.1142_1171dup	ENSP00000480780.1:p.His390_Ser391insLysAsnIleLysGluAlaLeuGluP...
ENST00000614895.4:c.4937_4966dup	ENSP00000478512.1:p.His1655_Ser1656insLysAsnIleLysGluAlaLeuGl...
ENST00000616114.4:c.4919_4948dup	ENSP00000483745.1:p.His1649_Ser1650insLysAsnIleLysGluAlaLeuGl...
ENST00000618301.4:c.1274_1303dup	ENSP00000482780.1:p.His434_Ser435insLysAsnIleLysGluAlaLeuGluP...
ENST00000621708.4:c.4940_4969dup	ENSP00000484454.1:p.His1656_Ser1657insLysAsnIleLysGluAlaLeuGl...
NM_001142771.1:c.4940_4969dup	NP_001136243.1:p.His1656_Ser1657insLysAsnIleLysGluAlaLeuGluPh...
NM_001142772.1:c.4925_4954dup	NP_001136244.1:p.His1651_Ser1652insLysAsnIleLysGluAlaLeuGluPh...
NM_001354420.1:c.4919_4948dup	NP_001341349.1:p.His1649_Ser1650insLysAsnIleLysGluAlaLeuGluPh...
NM_001354429.1:c.5048_5077dup	NP_001341358.1:p.His1692_Ser1693insLysAsnIleLysGluAlaLeuGluPh...
XR_001747192.2:n.11406_11435dup
XR_001747193.2:n.11397_11426dup
NM_001142771.2:c.4940_4969dup	NP_001136243.1:p.His1656_Ser1657insLysAsnIleLysGluAlaLeuGluPh...
NM_001142772.2:c.4925_4954dup	NP_001136244.1:p.His1651_Ser1652insLysAsnIleLysGluAlaLeuGluPh...
NM_001354420.2:c.4919_4948dup	NP_001341349.1:p.His1649_Ser1650insLysAsnIleLysGluAlaLeuGluPh...
NM_001354429.2:c.5048_5077dup	NP_001341358.1:p.His1692_Ser1693insLysAsnIleLysGluAlaLeuGluPh...
NM_001384140.1:c.5114_5143dup MANE Select	NP_001371069.1:p.His1714_Ser1715insLysAsnIleLysGluAlaLeuGluPh...