Canonical Allele Identifier: CA2609218890

Gene: PCDH15

Linked Data

• gnomAD v4: 10-53809252-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53809255_53809256del , CM000672.2:g.53809255_53809256del	GRCh38
NC_000010.10:g.55569015_55569016del , CM000672.1:g.55569015_55569016del	GRCh37
NC_000010.9:g.55239021_55239022del	NCBI36
NG_009191.2:g.997038_997039del
NG_009191.3:g.1824929_1824930del

Transcript Alleles

HGVS	Amino-acid change
ENST00000613657.6:c.4811_4812del	ENSP00000482794.1:p.Glu1604GlyfsTer9
ENST00000395445.6:c.4790_4791del	ENSP00000378832.2:p.Glu1597GlyfsTer9
ENST00000613657.5:c.4811_4812del	ENSP00000482794.1:p.Glu1604GlyfsTer9
ENST00000642496.1:c.3530+1302_3530+1303del
ENST00000644397.2:c.4671+1302_4671+1303del MANE Select	ENSP00000495195.1:n.4671+1302_4671+1303del
ENST00000373965.6:c.4482+1302_4482+1303del	ENSP00000363076.3:n.4482+1302_4482+1303del
ENST00000395438.5:c.*226_*227del	ENSP00000378826.2:n.*226_*227del
ENST00000395440.5:c.1598_1599del	ENSP00000378827.1:p.Glu533GlyfsTer9
ENST00000395442.5:c.1391_1392del	ENSP00000378829.1:p.Glu464GlyfsTer9
ENST00000395445.5:c.4790_4791del	ENSP00000378832.2:p.Glu1597GlyfsTer9
ENST00000395446.5:c.2384_2385del	ENSP00000378833.1:p.Glu795GlyfsTer9
ENST00000409834.5:c.*226_*227del	ENSP00000386693.1:n.*226_*227del
ENST00000414367.5:c.*849_*850del	ENSP00000412531.1:n.*849_*850del
ENST00000414778.5:c.4479+1302_4479+1303del	ENSP00000410304.2:n.4479+1302_4479+1303del
ENST00000476074.5:n.609+1302_609+1303del
ENST00000495484.5:c.699+1302_699+1303del	ENSP00000480780.1:n.699+1302_699+1303del
ENST00000612394.4:c.4808_4809del	ENSP00000482921.1:p.Glu1603GlyfsTer9
ENST00000613657.4:c.4811_4812del	ENSP00000482794.1:p.Glu1604GlyfsTer9
ENST00000614895.4:c.4494+1302_4494+1303del	ENSP00000478512.1:n.4494+1302_4494+1303del
ENST00000615043.1:c.411_412del
ENST00000616114.4:c.4476+1302_4476+1303del	ENSP00000483745.1:n.4476+1302_4476+1303del
ENST00000617271.4:c.*226_*227del	ENSP00000478076.1:n.*226_*227del
ENST00000618301.4:c.831+1302_831+1303del	ENSP00000482780.1:n.831+1302_831+1303del
ENST00000621708.4:c.4497+1302_4497+1303del	ENSP00000484454.1:n.4497+1302_4497+1303del
NM_001142769.1:c.4811_4812del	NP_001136241.1:p.Glu1604GlyfsTer9
NM_001142770.1:c.*226_*227del	NP_001136242.1:n.*226_*227del
NM_001142771.1:c.4497+1302_4497+1303del	NP_001136243.1:n.4497+1302_4497+1303del
NM_001142772.1:c.4482+1302_4482+1303del	NP_001136244.1:n.4482+1302_4482+1303del
NM_001142769.2:c.4811_4812del	NP_001136241.1:p.Glu1604GlyfsTer9
NM_001142770.2:c.*226_*227del	NP_001136242.1:n.*226_*227del
NM_001354411.1:c.4790_4791del	NP_001341340.1:p.Glu1597GlyfsTer9
NM_001354420.1:c.4476+1302_4476+1303del	NP_001341349.1:n.4476+1302_4476+1303del
NM_001354429.1:c.4605+1302_4605+1303del	NP_001341358.1:n.4605+1302_4605+1303del
XM_017016573.2:c.4790_4791del	XP_016872062.1:p.Glu1597GlyfsTer9
XR_001747192.2:n.10963+1302_10963+1303del
XR_001747193.2:n.10954+1302_10954+1303del
NM_001142769.3:c.4811_4812del	NP_001136241.1:p.Glu1604GlyfsTer9
NM_001142770.3:c.*226_*227del	NP_001136242.1:n.*226_*227del
NM_001142771.2:c.4497+1302_4497+1303del	NP_001136243.1:n.4497+1302_4497+1303del
NM_001142772.2:c.4482+1302_4482+1303del	NP_001136244.1:n.4482+1302_4482+1303del
NM_001354411.2:c.4790_4791del	NP_001341340.1:p.Glu1597GlyfsTer9
NM_001354420.2:c.4476+1302_4476+1303del	NP_001341349.1:n.4476+1302_4476+1303del
NM_001354429.2:c.4605+1302_4605+1303del	NP_001341358.1:n.4605+1302_4605+1303del
NM_001384140.1:c.4671+1302_4671+1303del MANE Select	NP_001371069.1:n.4671+1302_4671+1303del