Canonical Allele Identifier: CA1910755752

Gene: PCDH15

Linked Data

• dbSNP Id: rs778698392

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806609_53806611dup , CM000672.2:g.53806609_53806611dup	GRCh38
NC_000010.10:g.55566369_55566371dup , CM000672.1:g.55566369_55566371dup	GRCh37
NC_000010.9:g.55236375_55236377dup	NCBI36
NG_009191.2:g.999684_999686dup
NG_009191.3:g.1827575_1827577dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000642496.1:c.4053_4055dup
ENST00000644397.2:c.5194_5196dup MANE Select	ENSP00000495195.1:p.Asn1732_Leu1733insAsn
ENST00000373965.6:c.5005_5007dup	ENSP00000363076.3:p.Asn1669_Leu1670insAsn
ENST00000414778.5:c.5002_5004dup	ENSP00000410304.2:p.Asn1668_Leu1669insAsn
ENST00000495484.5:c.1222_1224dup	ENSP00000480780.1:p.Asn408_Leu409insAsn
ENST00000614895.4:c.5017_5019dup	ENSP00000478512.1:p.Asn1673_Leu1674insAsn
ENST00000616114.4:c.4999_5001dup	ENSP00000483745.1:p.Asn1667_Leu1668insAsn
ENST00000618301.4:c.1354_1356dup	ENSP00000482780.1:p.Asn452_Leu453insAsn
ENST00000621708.4:c.5020_5022dup	ENSP00000484454.1:p.Asn1674_Leu1675insAsn
NM_001142771.1:c.5020_5022dup	NP_001136243.1:p.Asn1674_Leu1675insAsn
NM_001142772.1:c.5005_5007dup	NP_001136244.1:p.Asn1669_Leu1670insAsn
NM_001354420.1:c.4999_5001dup	NP_001341349.1:p.Asn1667_Leu1668insAsn
NM_001354429.1:c.5128_5130dup	NP_001341358.1:p.Asn1710_Leu1711insAsn
XR_001747192.2:n.11486_11488dup
XR_001747193.2:n.11477_11479dup
NM_001142771.2:c.5020_5022dup	NP_001136243.1:p.Asn1674_Leu1675insAsn
NM_001142772.2:c.5005_5007dup	NP_001136244.1:p.Asn1669_Leu1670insAsn
NM_001354420.2:c.4999_5001dup	NP_001341349.1:p.Asn1667_Leu1668insAsn
NM_001354429.2:c.5128_5130dup	NP_001341358.1:p.Asn1710_Leu1711insAsn
NM_001384140.1:c.5194_5196dup MANE Select	NP_001371069.1:p.Asn1732_Leu1733insAsn