Canonical Allele Identifier: CA2788034650

Gene: PCDH15

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53809086_53809089del , CM000672.2:g.53809086_53809089del	GRCh38
NC_000010.10:g.55568846_55568849del , CM000672.1:g.55568846_55568849del	GRCh37
NC_000010.9:g.55238852_55238855del	NCBI36
NG_009191.2:g.997206_997209del
NG_009191.3:g.1825097_1825100del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613657.6:c.4979_4982del	ENSP00000482794.1:p.Ala1660GlyfsTer?
ENST00000395445.6:c.4958_4961del	ENSP00000378832.2:p.Ala1653GlyfsTer?
ENST00000613657.5:c.4979_4982del	ENSP00000482794.1:p.Ala1660GlyfsTer?
ENST00000642496.1:c.3530+1470_3530+1473del
ENST00000644397.2:c.4671+1470_4671+1473del MANE Select	ENSP00000495195.1:n.4671+1470_4671+1473del
ENST00000373965.6:c.4482+1470_4482+1473del	ENSP00000363076.3:n.4482+1470_4482+1473del
ENST00000395438.5:c.*394_*397del	ENSP00000378826.2:n.*394_*397del
ENST00000395440.5:c.1766_1769del	ENSP00000378827.1:p.Ala589GlyfsTer?
ENST00000395442.5:c.1559_1562del	ENSP00000378829.1:p.Ala520GlyfsTer?
ENST00000395445.5:c.4958_4961del	ENSP00000378832.2:p.Ala1653GlyfsTer?
ENST00000395446.5:c.2552_2555del	ENSP00000378833.1:p.Ala851GlyfsTer?
ENST00000409834.5:c.*394_*397del	ENSP00000386693.1:n.*394_*397del
ENST00000414367.5:c.*1017_*1020del	ENSP00000412531.1:n.*1017_*1020del
ENST00000414778.5:c.4479+1470_4479+1473del	ENSP00000410304.2:n.4479+1470_4479+1473del
ENST00000476074.5:n.609+1470_609+1473del
ENST00000495484.5:c.699+1470_699+1473del	ENSP00000480780.1:n.699+1470_699+1473del
ENST00000612394.4:c.4976_4979del	ENSP00000482921.1:p.Ala1659GlyfsTer?
ENST00000613657.4:c.4979_4982del	ENSP00000482794.1:p.Ala1660GlyfsTer?
ENST00000614895.4:c.4494+1470_4494+1473del	ENSP00000478512.1:n.4494+1470_4494+1473del
ENST00000615043.1:c.579_582del
ENST00000616114.4:c.4476+1470_4476+1473del	ENSP00000483745.1:n.4476+1470_4476+1473del
ENST00000617271.4:c.*394_*397del	ENSP00000478076.1:n.*394_*397del
ENST00000618301.4:c.831+1470_831+1473del	ENSP00000482780.1:n.831+1470_831+1473del
ENST00000621708.4:c.4497+1470_4497+1473del	ENSP00000484454.1:n.4497+1470_4497+1473del
NM_001142769.1:c.4979_4982del	NP_001136241.1:p.Ala1660GlyfsTer?
NM_001142770.1:c.*394_*397del	NP_001136242.1:n.*394_*397del
NM_001142771.1:c.4497+1470_4497+1473del	NP_001136243.1:n.4497+1470_4497+1473del
NM_001142772.1:c.4482+1470_4482+1473del	NP_001136244.1:n.4482+1470_4482+1473del
NM_001142769.2:c.4979_4982del	NP_001136241.1:p.Ala1660GlyfsTer?
NM_001142770.2:c.*394_*397del	NP_001136242.1:n.*394_*397del
NM_001354411.1:c.4958_4961del	NP_001341340.1:p.Ala1653GlyfsTer?
NM_001354420.1:c.4476+1470_4476+1473del	NP_001341349.1:n.4476+1470_4476+1473del
NM_001354429.1:c.4605+1470_4605+1473del	NP_001341358.1:n.4605+1470_4605+1473del
XM_017016573.2:c.4958_4961del	XP_016872062.1:p.Ala1653GlyfsTer?
XR_001747192.2:n.10963+1470_10963+1473del
XR_001747193.2:n.10954+1470_10954+1473del
NM_001142769.3:c.4979_4982del	NP_001136241.1:p.Ala1660GlyfsTer?
NM_001142770.3:c.*394_*397del	NP_001136242.1:n.*394_*397del
NM_001142771.2:c.4497+1470_4497+1473del	NP_001136243.1:n.4497+1470_4497+1473del
NM_001142772.2:c.4482+1470_4482+1473del	NP_001136244.1:n.4482+1470_4482+1473del
NM_001354411.2:c.4958_4961del	NP_001341340.1:p.Ala1653GlyfsTer?
NM_001354420.2:c.4476+1470_4476+1473del	NP_001341349.1:n.4476+1470_4476+1473del
NM_001354429.2:c.4605+1470_4605+1473del	NP_001341358.1:n.4605+1470_4605+1473del
NM_001384140.1:c.4671+1470_4671+1473del MANE Select	NP_001371069.1:n.4671+1470_4671+1473del