Canonical Allele Identifier: CA5504491

Gene: PCDH15

Linked Data

• dbSNP Id: rs778698392
• ExAC: 10:55566365 GGTT / G
• gnomAD v2: 10-55566365-GGTT-G
• gnomAD v4: 10-53806605-GGTT-G
• MyVariant Identifiers: chr10:g.55566366_55566368del (hg19) ; chr10:g.53806606_53806608del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806609_53806611del , CM000672.2:g.53806609_53806611del	GRCh38
NC_000010.10:g.55566369_55566371del , CM000672.1:g.55566369_55566371del	GRCh37
NC_000010.9:g.55236375_55236377del	NCBI36
NG_009191.2:g.999684_999686del
NG_009191.3:g.1827575_1827577del

Transcript Alleles

HGVS	Amino-acid change
ENST00000642496.1:c.4053_4055del
ENST00000644397.2:c.5194_5196del MANE Select	ENSP00000495195.1:p.Asn1732del
ENST00000373965.6:c.5005_5007del	ENSP00000363076.3:p.Asn1669del
ENST00000414778.5:c.5002_5004del	ENSP00000410304.2:p.Asn1668del
ENST00000495484.5:c.1222_1224del	ENSP00000480780.1:p.Asn408del
ENST00000614895.4:c.5017_5019del	ENSP00000478512.1:p.Asn1673del
ENST00000616114.4:c.4999_5001del	ENSP00000483745.1:p.Asn1667del
ENST00000618301.4:c.1354_1356del	ENSP00000482780.1:p.Asn452del
ENST00000621708.4:c.5020_5022del	ENSP00000484454.1:p.Asn1674del
NM_001142771.1:c.5020_5022del	NP_001136243.1:p.Asn1674del
NM_001142772.1:c.5005_5007del	NP_001136244.1:p.Asn1669del
NM_001354420.1:c.4999_5001del	NP_001341349.1:p.Asn1667del
NM_001354429.1:c.5128_5130del	NP_001341358.1:p.Asn1710del
XR_001747192.2:n.11486_11488del
XR_001747193.2:n.11477_11479del
NM_001142771.2:c.5020_5022del	NP_001136243.1:p.Asn1674del
NM_001142772.2:c.5005_5007del	NP_001136244.1:p.Asn1669del
NM_001354420.2:c.4999_5001del	NP_001341349.1:p.Asn1667del
NM_001354429.2:c.5128_5130del	NP_001341358.1:p.Asn1710del
NM_001384140.1:c.5194_5196del MANE Select	NP_001371069.1:p.Asn1732del