Canonical Allele Identifier: CA1910755745
Gene: PCDH15 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53806605_53806608delinsGGTT , CM000672.2:g.53806605_53806608delinsGGTT GRCh38
NC_000010.10:g.55566365_55566368delinsGGTT , CM000672.1:g.55566365_55566368delinsGGTT GRCh37
NC_000010.9:g.55236371_55236374delinsGGTT NCBI36
NG_009191.2:g.999684_999687delinsAACC
NG_009191.3:g.1827575_1827578delinsAACC

Transcript Alleles

HGVS Amino-acid change
ENST00000642496.1:c.4053_4056delinsAACC
ENST00000644397.2:c.5194_5197delinsAACC MANE Select ENSP00000495195.1:p.Asn1732=
ENST00000373965.6:c.5005_5008delinsAACC ENSP00000363076.3:p.Asn1669=
ENST00000414778.5:c.5002_5005delinsAACC ENSP00000410304.2:p.Asn1668=
ENST00000495484.5:c.1222_1225delinsAACC ENSP00000480780.1:p.Asn408=
ENST00000614895.4:c.5017_5020delinsAACC ENSP00000478512.1:p.Asn1673=
ENST00000616114.4:c.4999_5002delinsAACC ENSP00000483745.1:p.Asn1667=
ENST00000618301.4:c.1354_1357delinsAACC ENSP00000482780.1:p.Asn452=
ENST00000621708.4:c.5020_5023delinsAACC ENSP00000484454.1:p.Asn1674=
NM_001142771.1:c.5020_5023delinsAACC NP_001136243.1:p.Asn1674=
NM_001142772.1:c.5005_5008delinsAACC NP_001136244.1:p.Asn1669=
NM_001354420.1:c.4999_5002delinsAACC NP_001341349.1:p.Asn1667=
NM_001354429.1:c.5128_5131delinsAACC NP_001341358.1:p.Asn1710=
XR_001747192.2:n.11486_11489delinsAACC
XR_001747193.2:n.11477_11480delinsAACC
NM_001142771.2:c.5020_5023delinsAACC NP_001136243.1:p.Asn1674=
NM_001142772.2:c.5005_5008delinsAACC NP_001136244.1:p.Asn1669=
NM_001354420.2:c.4999_5002delinsAACC NP_001341349.1:p.Asn1667=
NM_001354429.2:c.5128_5131delinsAACC NP_001341358.1:p.Asn1710=
NM_001384140.1:c.5194_5197delinsAACC MANE Select NP_001371069.1:p.Asn1732=