Canonical Allele Identifier: CA5504490

Gene: PCDH15

Linked Data

• dbSNP Id: rs754667681
• ExAC: 10:55566364 AGGTTGTTCC / A
• gnomAD v2: 10-55566364-AGGTTGTTCC-A
• MyVariant Identifiers: chr10:g.55566365_55566373del (hg19) ; chr10:g.53806605_53806613del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806605_53806613del , CM000672.2:g.53806605_53806613del	GRCh38
NC_000010.10:g.55566365_55566373del , CM000672.1:g.55566365_55566373del	GRCh37
NC_000010.9:g.55236371_55236379del	NCBI36
NG_009191.2:g.999679_999687del
NG_009191.3:g.1827570_1827578del

Transcript Alleles

HGVS	Amino-acid change
ENST00000642496.1:c.4048_4056del
ENST00000644397.2:c.5189_5197del MANE Select	ENSP00000495195.1:p.Trp1730_Leu1733delinsPhe
ENST00000373965.6:c.5000_5008del	ENSP00000363076.3:p.Trp1667_Leu1670delinsPhe
ENST00000414778.5:c.4997_5005del	ENSP00000410304.2:p.Trp1666_Leu1669delinsPhe
ENST00000495484.5:c.1217_1225del	ENSP00000480780.1:p.Trp406_Leu409delinsPhe
ENST00000614895.4:c.5012_5020del	ENSP00000478512.1:p.Trp1671_Leu1674delinsPhe
ENST00000616114.4:c.4994_5002del	ENSP00000483745.1:p.Trp1665_Leu1668delinsPhe
ENST00000618301.4:c.1349_1357del	ENSP00000482780.1:p.Trp450_Leu453delinsPhe
ENST00000621708.4:c.5015_5023del	ENSP00000484454.1:p.Trp1672_Leu1675delinsPhe
NM_001142771.1:c.5015_5023del	NP_001136243.1:p.Trp1672_Leu1675delinsPhe
NM_001142772.1:c.5000_5008del	NP_001136244.1:p.Trp1667_Leu1670delinsPhe
NM_001354420.1:c.4994_5002del	NP_001341349.1:p.Trp1665_Leu1668delinsPhe
NM_001354429.1:c.5123_5131del	NP_001341358.1:p.Trp1708_Leu1711delinsPhe
XR_001747192.2:n.11481_11489del
XR_001747193.2:n.11472_11480del
NM_001142771.2:c.5015_5023del	NP_001136243.1:p.Trp1672_Leu1675delinsPhe
NM_001142772.2:c.5000_5008del	NP_001136244.1:p.Trp1667_Leu1670delinsPhe
NM_001354420.2:c.4994_5002del	NP_001341349.1:p.Trp1665_Leu1668delinsPhe
NM_001354429.2:c.5123_5131del	NP_001341358.1:p.Trp1708_Leu1711delinsPhe
NM_001384140.1:c.5189_5197del MANE Select	NP_001371069.1:p.Trp1730_Leu1733delinsPhe