Canonical Allele Identifier: CA2609218885

Gene: PCDH15

Linked Data

• gnomAD v4: 10-53809095-CCTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53809098_53809100del , CM000672.2:g.53809098_53809100del	GRCh38
NC_000010.10:g.55568858_55568860del , CM000672.1:g.55568858_55568860del	GRCh37
NC_000010.9:g.55238864_55238866del	NCBI36
NG_009191.2:g.997194_997196del
NG_009191.3:g.1825085_1825087del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613657.6:c.4967_4969del	ENSP00000482794.1:p.Glu1656del
ENST00000395445.6:c.4946_4948del	ENSP00000378832.2:p.Glu1649del
ENST00000613657.5:c.4967_4969del	ENSP00000482794.1:p.Glu1656del
ENST00000642496.1:c.3530+1458_3530+1460del
ENST00000644397.2:c.4671+1458_4671+1460del MANE Select	ENSP00000495195.1:n.4671+1458_4671+1460del
ENST00000373965.6:c.4482+1458_4482+1460del	ENSP00000363076.3:n.4482+1458_4482+1460del
ENST00000395438.5:c.*382_*384del	ENSP00000378826.2:n.*382_*384del
ENST00000395440.5:c.1754_1756del	ENSP00000378827.1:p.Glu585del
ENST00000395442.5:c.1547_1549del	ENSP00000378829.1:p.Glu516del
ENST00000395445.5:c.4946_4948del	ENSP00000378832.2:p.Glu1649del
ENST00000395446.5:c.2540_2542del	ENSP00000378833.1:p.Glu847del
ENST00000409834.5:c.*382_*384del	ENSP00000386693.1:n.*382_*384del
ENST00000414367.5:c.*1005_*1007del	ENSP00000412531.1:n.*1005_*1007del
ENST00000414778.5:c.4479+1458_4479+1460del	ENSP00000410304.2:n.4479+1458_4479+1460del
ENST00000476074.5:n.609+1458_609+1460del
ENST00000495484.5:c.699+1458_699+1460del	ENSP00000480780.1:n.699+1458_699+1460del
ENST00000612394.4:c.4964_4966del	ENSP00000482921.1:p.Glu1655del
ENST00000613657.4:c.4967_4969del	ENSP00000482794.1:p.Glu1656del
ENST00000614895.4:c.4494+1458_4494+1460del	ENSP00000478512.1:n.4494+1458_4494+1460del
ENST00000615043.1:c.567_569del
ENST00000616114.4:c.4476+1458_4476+1460del	ENSP00000483745.1:n.4476+1458_4476+1460del
ENST00000617271.4:c.*382_*384del	ENSP00000478076.1:n.*382_*384del
ENST00000618301.4:c.831+1458_831+1460del	ENSP00000482780.1:n.831+1458_831+1460del
ENST00000621708.4:c.4497+1458_4497+1460del	ENSP00000484454.1:n.4497+1458_4497+1460del
NM_001142769.1:c.4967_4969del	NP_001136241.1:p.Glu1656del
NM_001142770.1:c.*382_*384del	NP_001136242.1:n.*382_*384del
NM_001142771.1:c.4497+1458_4497+1460del	NP_001136243.1:n.4497+1458_4497+1460del
NM_001142772.1:c.4482+1458_4482+1460del	NP_001136244.1:n.4482+1458_4482+1460del
NM_001142769.2:c.4967_4969del	NP_001136241.1:p.Glu1656del
NM_001142770.2:c.*382_*384del	NP_001136242.1:n.*382_*384del
NM_001354411.1:c.4946_4948del	NP_001341340.1:p.Glu1649del
NM_001354420.1:c.4476+1458_4476+1460del	NP_001341349.1:n.4476+1458_4476+1460del
NM_001354429.1:c.4605+1458_4605+1460del	NP_001341358.1:n.4605+1458_4605+1460del
XM_017016573.2:c.4946_4948del	XP_016872062.1:p.Glu1649del
XR_001747192.2:n.10963+1458_10963+1460del
XR_001747193.2:n.10954+1458_10954+1460del
NM_001142769.3:c.4967_4969del	NP_001136241.1:p.Glu1656del
NM_001142770.3:c.*382_*384del	NP_001136242.1:n.*382_*384del
NM_001142771.2:c.4497+1458_4497+1460del	NP_001136243.1:n.4497+1458_4497+1460del
NM_001142772.2:c.4482+1458_4482+1460del	NP_001136244.1:n.4482+1458_4482+1460del
NM_001354411.2:c.4946_4948del	NP_001341340.1:p.Glu1649del
NM_001354420.2:c.4476+1458_4476+1460del	NP_001341349.1:n.4476+1458_4476+1460del
NM_001354429.2:c.4605+1458_4605+1460del	NP_001341358.1:n.4605+1458_4605+1460del
NM_001384140.1:c.4671+1458_4671+1460del MANE Select	NP_001371069.1:n.4671+1458_4671+1460del