Canonical Allele Identifier: CA1910756050

Gene: PCDH15

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806712_53806720delinsTCAACTGTG , CM000672.2:g.53806712_53806720delinsTCAACTGTG	GRCh38
NC_000010.10:g.55566472_55566480delinsTCAACTGTG , CM000672.1:g.55566472_55566480delinsTCAACTGTG	GRCh37
NC_000010.9:g.55236478_55236486delinsTCAACTGTG	NCBI36
NG_009191.2:g.999572_999580delinsCACAGTTGA
NG_009191.3:g.1827463_1827471delinsCACAGTTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642496.1:c.3941_3949delinsCACAGTTGA
ENST00000644397.2:c.5082_5090delinsCACAGTTGA MANE Select	ENSP00000495195.1:p.Ser1694=
ENST00000373965.6:c.4893_4901delinsCACAGTTGA	ENSP00000363076.3:p.Ser1631=
ENST00000414778.5:c.4890_4898delinsCACAGTTGA	ENSP00000410304.2:p.Ser1630=
ENST00000495484.5:c.1110_1118delinsCACAGTTGA	ENSP00000480780.1:p.Ser370=
ENST00000614895.4:c.4905_4913delinsCACAGTTGA	ENSP00000478512.1:p.Ser1635=
ENST00000616114.4:c.4887_4895delinsCACAGTTGA	ENSP00000483745.1:p.Ser1629=
ENST00000618301.4:c.1242_1250delinsCACAGTTGA	ENSP00000482780.1:p.Ser414=
ENST00000621708.4:c.4908_4916delinsCACAGTTGA	ENSP00000484454.1:p.Ser1636=
NM_001142771.1:c.4908_4916delinsCACAGTTGA	NP_001136243.1:p.Ser1636=
NM_001142772.1:c.4893_4901delinsCACAGTTGA	NP_001136244.1:p.Ser1631=
NM_001354420.1:c.4887_4895delinsCACAGTTGA	NP_001341349.1:p.Ser1629=
NM_001354429.1:c.5016_5024delinsCACAGTTGA	NP_001341358.1:p.Ser1672=
XR_001747192.2:n.11374_11382delinsCACAGTTGA
XR_001747193.2:n.11365_11373delinsCACAGTTGA
NM_001142771.2:c.4908_4916delinsCACAGTTGA	NP_001136243.1:p.Ser1636=
NM_001142772.2:c.4893_4901delinsCACAGTTGA	NP_001136244.1:p.Ser1631=
NM_001354420.2:c.4887_4895delinsCACAGTTGA	NP_001341349.1:p.Ser1629=
NM_001354429.2:c.5016_5024delinsCACAGTTGA	NP_001341358.1:p.Ser1672=
NM_001384140.1:c.5082_5090delinsCACAGTTGA MANE Select	NP_001371069.1:p.Ser1694=