Canonical Allele Identifier: CA912970255
Gene: PCDH15 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53806712_53806720del , CM000672.2:g.53806712_53806720del GRCh38
NC_000010.10:g.55566472_55566480del , CM000672.1:g.55566472_55566480del GRCh37
NC_000010.9:g.55236478_55236486del NCBI36
NG_009191.2:g.999572_999580del
NG_009191.3:g.1827463_1827471del

Transcript Alleles

HGVS Amino-acid Change
ENST00000642496.1:c.3941_3949del
ENST00000644397.2:c.5082_5090del MANE Select ENSP00000495195.1:p.Ser1694_Glu1697delinsArg
ENST00000373965.6:c.4893_4901del ENSP00000363076.3:p.Ser1631_Glu1634delinsArg
ENST00000414778.5:c.4890_4898del ENSP00000410304.2:p.Ser1630_Glu1633delinsArg
ENST00000495484.5:c.1110_1118del ENSP00000480780.1:p.Ser370_Glu373delinsArg
ENST00000614895.4:c.4905_4913del ENSP00000478512.1:p.Ser1635_Glu1638delinsArg
ENST00000616114.4:c.4887_4895del ENSP00000483745.1:p.Ser1629_Glu1632delinsArg
ENST00000618301.4:c.1242_1250del ENSP00000482780.1:p.Ser414_Glu417delinsArg
ENST00000621708.4:c.4908_4916del ENSP00000484454.1:p.Ser1636_Glu1639delinsArg
NM_001142771.1:c.4908_4916del NP_001136243.1:p.Ser1636_Glu1639delinsArg
NM_001142772.1:c.4893_4901del NP_001136244.1:p.Ser1631_Glu1634delinsArg
NM_001354420.1:c.4887_4895del NP_001341349.1:p.Ser1629_Glu1632delinsArg
NM_001354429.1:c.5016_5024del NP_001341358.1:p.Ser1672_Glu1675delinsArg
XR_001747192.2:n.11374_11382del
XR_001747193.2:n.11365_11373del
NM_001142771.2:c.4908_4916del NP_001136243.1:p.Ser1636_Glu1639delinsArg
NM_001142772.2:c.4893_4901del NP_001136244.1:p.Ser1631_Glu1634delinsArg
NM_001354420.2:c.4887_4895del NP_001341349.1:p.Ser1629_Glu1632delinsArg
NM_001354429.2:c.5016_5024del NP_001341358.1:p.Ser1672_Glu1675delinsArg
NM_001384140.1:c.5082_5090del MANE Select NP_001371069.1:p.Ser1694_Glu1697delinsArg