Canonical Allele Identifier: CA653310992

Gene: PCDH15

Linked Data

• COSMIC: COSN24407937

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53809064_53809065dup , CM000672.2:g.53809064_53809065dup	GRCh38
NC_000010.10:g.55568824_55568825dup , CM000672.1:g.55568824_55568825dup	GRCh37
NC_000010.9:g.55238830_55238831dup	NCBI36
NG_009191.2:g.997227_997228dup
NG_009191.3:g.1825118_1825119dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613657.6:c.5000_5001dup	ENSP00000482794.1:p.Arg1668GlnfsTer?
ENST00000395445.6:c.4979_4980dup	ENSP00000378832.2:p.Arg1661GlnfsTer?
ENST00000613657.5:c.5000_5001dup	ENSP00000482794.1:p.Arg1668GlnfsTer?
ENST00000642496.1:c.3530+1491_3530+1492dup
ENST00000644397.2:c.4671+1491_4671+1492dup MANE Select	ENSP00000495195.1:n.4671+1491_4671+1492dup
ENST00000373965.6:c.4482+1491_4482+1492dup	ENSP00000363076.3:n.4482+1491_4482+1492dup
ENST00000395438.5:c.*415_*416dup	ENSP00000378826.2:n.*415_*416dup
ENST00000395440.5:c.1787_1788dup	ENSP00000378827.1:p.Arg597GlnfsTer?
ENST00000395442.5:c.1580_1581dup	ENSP00000378829.1:p.Arg528GlnfsTer?
ENST00000395445.5:c.4979_4980dup	ENSP00000378832.2:p.Arg1661GlnfsTer?
ENST00000395446.5:c.2573_2574dup	ENSP00000378833.1:p.Arg859GlnfsTer?
ENST00000409834.5:c.*415_*416dup	ENSP00000386693.1:n.*415_*416dup
ENST00000414367.5:c.*1038_*1039dup	ENSP00000412531.1:n.*1038_*1039dup
ENST00000414778.5:c.4479+1491_4479+1492dup	ENSP00000410304.2:n.4479+1491_4479+1492dup
ENST00000476074.5:n.609+1491_609+1492dup
ENST00000495484.5:c.699+1491_699+1492dup	ENSP00000480780.1:n.699+1491_699+1492dup
ENST00000612394.4:c.4997_4998dup	ENSP00000482921.1:p.Arg1667GlnfsTer?
ENST00000613657.4:c.5000_5001dup	ENSP00000482794.1:p.Arg1668GlnfsTer?
ENST00000614895.4:c.4494+1491_4494+1492dup	ENSP00000478512.1:n.4494+1491_4494+1492dup
ENST00000615043.1:c.600_601dup
ENST00000616114.4:c.4476+1491_4476+1492dup	ENSP00000483745.1:n.4476+1491_4476+1492dup
ENST00000617271.4:c.*415_*416dup	ENSP00000478076.1:n.*415_*416dup
ENST00000618301.4:c.831+1491_831+1492dup	ENSP00000482780.1:n.831+1491_831+1492dup
ENST00000621708.4:c.4497+1491_4497+1492dup	ENSP00000484454.1:n.4497+1491_4497+1492dup
NM_001142769.1:c.5000_5001dup	NP_001136241.1:p.Arg1668GlnfsTer?
NM_001142770.1:c.*415_*416dup	NP_001136242.1:n.*415_*416dup
NM_001142771.1:c.4497+1491_4497+1492dup	NP_001136243.1:n.4497+1491_4497+1492dup
NM_001142772.1:c.4482+1491_4482+1492dup	NP_001136244.1:n.4482+1491_4482+1492dup
NM_001142769.2:c.5000_5001dup	NP_001136241.1:p.Arg1668GlnfsTer?
NM_001142770.2:c.*415_*416dup	NP_001136242.1:n.*415_*416dup
NM_001354411.1:c.4979_4980dup	NP_001341340.1:p.Arg1661GlnfsTer?
NM_001354420.1:c.4476+1491_4476+1492dup	NP_001341349.1:n.4476+1491_4476+1492dup
NM_001354429.1:c.4605+1491_4605+1492dup	NP_001341358.1:n.4605+1491_4605+1492dup
XM_017016573.2:c.4979_4980dup	XP_016872062.1:p.Arg1661GlnfsTer?
XR_001747192.2:n.10963+1491_10963+1492dup
XR_001747193.2:n.10954+1491_10954+1492dup
NM_001142769.3:c.5000_5001dup	NP_001136241.1:p.Arg1668GlnfsTer?
NM_001142770.3:c.*415_*416dup	NP_001136242.1:n.*415_*416dup
NM_001142771.2:c.4497+1491_4497+1492dup	NP_001136243.1:n.4497+1491_4497+1492dup
NM_001142772.2:c.4482+1491_4482+1492dup	NP_001136244.1:n.4482+1491_4482+1492dup
NM_001354411.2:c.4979_4980dup	NP_001341340.1:p.Arg1661GlnfsTer?
NM_001354420.2:c.4476+1491_4476+1492dup	NP_001341349.1:n.4476+1491_4476+1492dup
NM_001354429.2:c.4605+1491_4605+1492dup	NP_001341358.1:n.4605+1491_4605+1492dup
NM_001384140.1:c.4671+1491_4671+1492dup MANE Select	NP_001371069.1:n.4671+1491_4671+1492dup