Canonical Allele Identifier: CA5504719

Gene: PCDH15

Linked Data

• ClinVar Variation Id: 552177
• ClinVar RCV Id: RCV000667399
• dbSNP Id: rs769671738
• ExAC: 10:55568678 TCTGTACTTTCTTCCACAGGGG / T
• gnomAD v2: 10-55568678-TCTGTACTTTCTTCCACAGGGG-T
• gnomAD v3: 10-53808918-TCTGTACTTTCTTCCACAGGGG-T
• gnomAD v4: 10-53808918-TCTGTACTTTCTTCCACAGGGG-T
• MyVariant Identifiers: chr10:g.55568679_55568699del (hg19) ; chr10:g.53808919_53808939del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53808922_53808942del , CM000672.2:g.53808922_53808942del	GRCh38
NC_000010.10:g.55568682_55568702del , CM000672.1:g.55568682_55568702del	GRCh37
NC_000010.9:g.55238688_55238708del	NCBI36
NG_009191.2:g.997353_997373del
NG_009191.3:g.1825244_1825264del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613657.6:c.5126_5146del	ENSP00000482794.1:p.Ala1709_Thr1715del
ENST00000395445.6:c.5105_5125del	ENSP00000378832.2:p.Ala1702_Thr1708del
ENST00000613657.5:c.5126_5146del	ENSP00000482794.1:p.Ala1709_Thr1715del
ENST00000642496.1:c.3530+1617_3530+1637del
ENST00000644397.2:c.4671+1617_4671+1637del MANE Select	ENSP00000495195.1:n.4671+1617_4671+1637del
ENST00000373965.6:c.4482+1617_4482+1637del	ENSP00000363076.3:n.4482+1617_4482+1637del
ENST00000395438.5:c.*541_*561del	ENSP00000378826.2:n.*541_*561del
ENST00000395440.5:c.1913_1933del	ENSP00000378827.1:p.Ala638_Thr644del
ENST00000395442.5:c.1706_1726del	ENSP00000378829.1:p.Ala569_Thr575del
ENST00000395445.5:c.5105_5125del	ENSP00000378832.2:p.Ala1702_Thr1708del
ENST00000395446.5:c.2699_2719del	ENSP00000378833.1:p.Ala900_Thr906del
ENST00000409834.5:c.*541_*561del	ENSP00000386693.1:n.*541_*561del
ENST00000414367.5:c.*1164_*1184del	ENSP00000412531.1:n.*1164_*1184del
ENST00000414778.5:c.4479+1617_4479+1637del	ENSP00000410304.2:n.4479+1617_4479+1637del
ENST00000476074.5:n.609+1617_609+1637del
ENST00000495484.5:c.699+1617_699+1637del	ENSP00000480780.1:n.699+1617_699+1637del
ENST00000612394.4:c.5123_5143del	ENSP00000482921.1:p.Ala1708_Thr1714del
ENST00000613657.4:c.5126_5146del	ENSP00000482794.1:p.Ala1709_Thr1715del
ENST00000614895.4:c.4494+1617_4494+1637del	ENSP00000478512.1:n.4494+1617_4494+1637del
ENST00000615043.1:c.726_746del
ENST00000616114.4:c.4476+1617_4476+1637del	ENSP00000483745.1:n.4476+1617_4476+1637del
ENST00000617271.4:c.*541_*561del	ENSP00000478076.1:n.*541_*561del
ENST00000618301.4:c.831+1617_831+1637del	ENSP00000482780.1:n.831+1617_831+1637del
ENST00000621708.4:c.4497+1617_4497+1637del	ENSP00000484454.1:n.4497+1617_4497+1637del
NM_001142769.1:c.5126_5146del	NP_001136241.1:p.Ala1709_Thr1715del
NM_001142770.1:c.*541_*561del	NP_001136242.1:n.*541_*561del
NM_001142771.1:c.4497+1617_4497+1637del	NP_001136243.1:n.4497+1617_4497+1637del
NM_001142772.1:c.4482+1617_4482+1637del	NP_001136244.1:n.4482+1617_4482+1637del
NM_001142769.2:c.5126_5146del	NP_001136241.1:p.Ala1709_Thr1715del
NM_001142770.2:c.*541_*561del	NP_001136242.1:n.*541_*561del
NM_001354411.1:c.5105_5125del	NP_001341340.1:p.Ala1702_Thr1708del
NM_001354420.1:c.4476+1617_4476+1637del	NP_001341349.1:n.4476+1617_4476+1637del
NM_001354429.1:c.4605+1617_4605+1637del	NP_001341358.1:n.4605+1617_4605+1637del
XM_017016573.2:c.5105_5125del	XP_016872062.1:p.Ala1702_Thr1708del
XR_001747192.2:n.10963+1617_10963+1637del
XR_001747193.2:n.10954+1617_10954+1637del
NM_001142769.3:c.5126_5146del	NP_001136241.1:p.Ala1709_Thr1715del
NM_001142770.3:c.*541_*561del	NP_001136242.1:n.*541_*561del
NM_001142771.2:c.4497+1617_4497+1637del	NP_001136243.1:n.4497+1617_4497+1637del
NM_001142772.2:c.4482+1617_4482+1637del	NP_001136244.1:n.4482+1617_4482+1637del
NM_001354411.2:c.5105_5125del	NP_001341340.1:p.Ala1702_Thr1708del
NM_001354420.2:c.4476+1617_4476+1637del	NP_001341349.1:n.4476+1617_4476+1637del
NM_001354429.2:c.4605+1617_4605+1637del	NP_001341358.1:n.4605+1617_4605+1637del
NM_001384140.1:c.4671+1617_4671+1637del MANE Select	NP_001371069.1:n.4671+1617_4671+1637del