Canonical Allele Identifier: CA2609218881

Gene: PCDH15

Linked Data

• gnomAD v4: 10-53808952-CTTCTTCTTCTGAGTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53808963_53808977del , CM000672.2:g.53808963_53808977del	GRCh38
NC_000010.10:g.55568723_55568737del , CM000672.1:g.55568723_55568737del	GRCh37
NC_000010.9:g.55238729_55238743del	NCBI36
NG_009191.2:g.997325_997339del
NG_009191.3:g.1825216_1825230del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613657.6:c.5098_5112del	ENSP00000482794.1:p.His1700_Glu1704del
ENST00000395445.6:c.5077_5091del	ENSP00000378832.2:p.His1693_Glu1697del
ENST00000613657.5:c.5098_5112del	ENSP00000482794.1:p.His1700_Glu1704del
ENST00000642496.1:c.3530+1589_3530+1603del
ENST00000644397.2:c.4671+1589_4671+1603del MANE Select	ENSP00000495195.1:n.4671+1589_4671+1603del
ENST00000373965.6:c.4482+1589_4482+1603del	ENSP00000363076.3:n.4482+1589_4482+1603del
ENST00000395438.5:c.*513_*527del	ENSP00000378826.2:n.*513_*527del
ENST00000395440.5:c.1885_1899del	ENSP00000378827.1:p.His629_Glu633del
ENST00000395442.5:c.1678_1692del	ENSP00000378829.1:p.His560_Glu564del
ENST00000395445.5:c.5077_5091del	ENSP00000378832.2:p.His1693_Glu1697del
ENST00000395446.5:c.2671_2685del	ENSP00000378833.1:p.His891_Glu895del
ENST00000409834.5:c.*513_*527del	ENSP00000386693.1:n.*513_*527del
ENST00000414367.5:c.*1136_*1150del	ENSP00000412531.1:n.*1136_*1150del
ENST00000414778.5:c.4479+1589_4479+1603del	ENSP00000410304.2:n.4479+1589_4479+1603del
ENST00000476074.5:n.609+1589_609+1603del
ENST00000495484.5:c.699+1589_699+1603del	ENSP00000480780.1:n.699+1589_699+1603del
ENST00000612394.4:c.5095_5109del	ENSP00000482921.1:p.His1699_Glu1703del
ENST00000613657.4:c.5098_5112del	ENSP00000482794.1:p.His1700_Glu1704del
ENST00000614895.4:c.4494+1589_4494+1603del	ENSP00000478512.1:n.4494+1589_4494+1603del
ENST00000615043.1:c.698_712del
ENST00000616114.4:c.4476+1589_4476+1603del	ENSP00000483745.1:n.4476+1589_4476+1603del
ENST00000617271.4:c.*513_*527del	ENSP00000478076.1:n.*513_*527del
ENST00000618301.4:c.831+1589_831+1603del	ENSP00000482780.1:n.831+1589_831+1603del
ENST00000621708.4:c.4497+1589_4497+1603del	ENSP00000484454.1:n.4497+1589_4497+1603del
NM_001142769.1:c.5098_5112del	NP_001136241.1:p.His1700_Glu1704del
NM_001142770.1:c.*513_*527del	NP_001136242.1:n.*513_*527del
NM_001142771.1:c.4497+1589_4497+1603del	NP_001136243.1:n.4497+1589_4497+1603del
NM_001142772.1:c.4482+1589_4482+1603del	NP_001136244.1:n.4482+1589_4482+1603del
NM_001142769.2:c.5098_5112del	NP_001136241.1:p.His1700_Glu1704del
NM_001142770.2:c.*513_*527del	NP_001136242.1:n.*513_*527del
NM_001354411.1:c.5077_5091del	NP_001341340.1:p.His1693_Glu1697del
NM_001354420.1:c.4476+1589_4476+1603del	NP_001341349.1:n.4476+1589_4476+1603del
NM_001354429.1:c.4605+1589_4605+1603del	NP_001341358.1:n.4605+1589_4605+1603del
XM_017016573.2:c.5077_5091del	XP_016872062.1:p.His1693_Glu1697del
XR_001747192.2:n.10963+1589_10963+1603del
XR_001747193.2:n.10954+1589_10954+1603del
NM_001142769.3:c.5098_5112del	NP_001136241.1:p.His1700_Glu1704del
NM_001142770.3:c.*513_*527del	NP_001136242.1:n.*513_*527del
NM_001142771.2:c.4497+1589_4497+1603del	NP_001136243.1:n.4497+1589_4497+1603del
NM_001142772.2:c.4482+1589_4482+1603del	NP_001136244.1:n.4482+1589_4482+1603del
NM_001354411.2:c.5077_5091del	NP_001341340.1:p.His1693_Glu1697del
NM_001354420.2:c.4476+1589_4476+1603del	NP_001341349.1:n.4476+1589_4476+1603del
NM_001354429.2:c.4605+1589_4605+1603del	NP_001341358.1:n.4605+1589_4605+1603del
NM_001384140.1:c.4671+1589_4671+1603del MANE Select	NP_001371069.1:n.4671+1589_4671+1603del