Canonical Allele Identifier: CA1910762614

Gene: PCDH15

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53809105_53809107delinsCTG , CM000672.2:g.53809105_53809107delinsCTG	GRCh38
NC_000010.10:g.55568865_55568867delinsCTG , CM000672.1:g.55568865_55568867delinsCTG	GRCh37
NC_000010.9:g.55238871_55238873delinsCTG	NCBI36
NG_009191.2:g.997185_997187delinsCAG
NG_009191.3:g.1825076_1825078delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613657.6:c.4958_4960delinsCAG	ENSP00000482794.1:p.Thr1653=
ENST00000395445.6:c.4937_4939delinsCAG	ENSP00000378832.2:p.Thr1646=
ENST00000613657.5:c.4958_4960delinsCAG	ENSP00000482794.1:p.Thr1653=
ENST00000642496.1:c.3530+1449_3530+1451delinsCAG
ENST00000644397.2:c.4671+1449_4671+1451delinsCAG MANE Select	ENSP00000495195.1:n.4671+1449_4671+1451delinsCAG
ENST00000373965.6:c.4482+1449_4482+1451delinsCAG	ENSP00000363076.3:n.4482+1449_4482+1451delinsCAG
ENST00000395438.5:c.*373_*375delinsCAG	ENSP00000378826.2:n.*373_*375delinsCAG
ENST00000395440.5:c.1745_1747delinsCAG	ENSP00000378827.1:p.Thr582=
ENST00000395442.5:c.1538_1540delinsCAG	ENSP00000378829.1:p.Thr513=
ENST00000395445.5:c.4937_4939delinsCAG	ENSP00000378832.2:p.Thr1646=
ENST00000395446.5:c.2531_2533delinsCAG	ENSP00000378833.1:p.Thr844=
ENST00000409834.5:c.*373_*375delinsCAG	ENSP00000386693.1:n.*373_*375delinsCAG
ENST00000414367.5:c.*996_*998delinsCAG	ENSP00000412531.1:n.*996_*998delinsCAG
ENST00000414778.5:c.4479+1449_4479+1451delinsCAG	ENSP00000410304.2:n.4479+1449_4479+1451delinsCAG
ENST00000476074.5:n.609+1449_609+1451delinsCAG
ENST00000495484.5:c.699+1449_699+1451delinsCAG	ENSP00000480780.1:n.699+1449_699+1451delinsCAG
ENST00000612394.4:c.4955_4957delinsCAG	ENSP00000482921.1:p.Thr1652=
ENST00000613657.4:c.4958_4960delinsCAG	ENSP00000482794.1:p.Thr1653=
ENST00000614895.4:c.4494+1449_4494+1451delinsCAG	ENSP00000478512.1:n.4494+1449_4494+1451delinsCAG
ENST00000615043.1:c.558_560delinsCAG
ENST00000616114.4:c.4476+1449_4476+1451delinsCAG	ENSP00000483745.1:n.4476+1449_4476+1451delinsCAG
ENST00000617271.4:c.*373_*375delinsCAG	ENSP00000478076.1:n.*373_*375delinsCAG
ENST00000618301.4:c.831+1449_831+1451delinsCAG	ENSP00000482780.1:n.831+1449_831+1451delinsCAG
ENST00000621708.4:c.4497+1449_4497+1451delinsCAG	ENSP00000484454.1:n.4497+1449_4497+1451delinsCAG
NM_001142769.1:c.4958_4960delinsCAG	NP_001136241.1:p.Thr1653=
NM_001142770.1:c.*373_*375delinsCAG	NP_001136242.1:n.*373_*375delinsCAG
NM_001142771.1:c.4497+1449_4497+1451delinsCAG	NP_001136243.1:n.4497+1449_4497+1451delinsCAG
NM_001142772.1:c.4482+1449_4482+1451delinsCAG	NP_001136244.1:n.4482+1449_4482+1451delinsCAG
NM_001142769.2:c.4958_4960delinsCAG	NP_001136241.1:p.Thr1653=
NM_001142770.2:c.*373_*375delinsCAG	NP_001136242.1:n.*373_*375delinsCAG
NM_001354411.1:c.4937_4939delinsCAG	NP_001341340.1:p.Thr1646=
NM_001354420.1:c.4476+1449_4476+1451delinsCAG	NP_001341349.1:n.4476+1449_4476+1451delinsCAG
NM_001354429.1:c.4605+1449_4605+1451delinsCAG	NP_001341358.1:n.4605+1449_4605+1451delinsCAG
XM_017016573.2:c.4937_4939delinsCAG	XP_016872062.1:p.Thr1646=
XR_001747192.2:n.10963+1449_10963+1451delinsCAG
XR_001747193.2:n.10954+1449_10954+1451delinsCAG
NM_001142769.3:c.4958_4960delinsCAG	NP_001136241.1:p.Thr1653=
NM_001142770.3:c.*373_*375delinsCAG	NP_001136242.1:n.*373_*375delinsCAG
NM_001142771.2:c.4497+1449_4497+1451delinsCAG	NP_001136243.1:n.4497+1449_4497+1451delinsCAG
NM_001142772.2:c.4482+1449_4482+1451delinsCAG	NP_001136244.1:n.4482+1449_4482+1451delinsCAG
NM_001354411.2:c.4937_4939delinsCAG	NP_001341340.1:p.Thr1646=
NM_001354420.2:c.4476+1449_4476+1451delinsCAG	NP_001341349.1:n.4476+1449_4476+1451delinsCAG
NM_001354429.2:c.4605+1449_4605+1451delinsCAG	NP_001341358.1:n.4605+1449_4605+1451delinsCAG
NM_001384140.1:c.4671+1449_4671+1451delinsCAG MANE Select	NP_001371069.1:n.4671+1449_4671+1451delinsCAG