Canonical Allele Identifier: CA912970265

Gene: PCDH15

Linked Data

• MyVariant Identifiers: chr10:g.55568895_55568896del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53809135_53809136del , CM000672.2:g.53809135_53809136del	GRCh38
NC_000010.10:g.55568895_55568896del , CM000672.1:g.55568895_55568896del	GRCh37
NC_000010.9:g.55238901_55238902del	NCBI36
NG_009191.2:g.997157_997158del
NG_009191.3:g.1825048_1825049del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613657.6:c.4930_4931del	ENSP00000482794.1:p.Thr1644ProfsTer2
ENST00000395445.6:c.4909_4910del	ENSP00000378832.2:p.Thr1637ProfsTer2
ENST00000613657.5:c.4930_4931del	ENSP00000482794.1:p.Thr1644ProfsTer2
ENST00000642496.1:c.3530+1421_3530+1422del
ENST00000644397.2:c.4671+1421_4671+1422del MANE Select	ENSP00000495195.1:n.4671+1421_4671+1422del
ENST00000373965.6:c.4482+1421_4482+1422del	ENSP00000363076.3:n.4482+1421_4482+1422del
ENST00000395438.5:c.*345_*346del	ENSP00000378826.2:n.*345_*346del
ENST00000395440.5:c.1717_1718del	ENSP00000378827.1:p.Thr573ProfsTer2
ENST00000395442.5:c.1510_1511del	ENSP00000378829.1:p.Thr504ProfsTer2
ENST00000395445.5:c.4909_4910del	ENSP00000378832.2:p.Thr1637ProfsTer2
ENST00000395446.5:c.2503_2504del	ENSP00000378833.1:p.Thr835ProfsTer2
ENST00000409834.5:c.*345_*346del	ENSP00000386693.1:n.*345_*346del
ENST00000414367.5:c.*968_*969del	ENSP00000412531.1:n.*968_*969del
ENST00000414778.5:c.4479+1421_4479+1422del	ENSP00000410304.2:n.4479+1421_4479+1422del
ENST00000476074.5:n.609+1421_609+1422del
ENST00000495484.5:c.699+1421_699+1422del	ENSP00000480780.1:n.699+1421_699+1422del
ENST00000612394.4:c.4927_4928del	ENSP00000482921.1:p.Thr1643ProfsTer2
ENST00000613657.4:c.4930_4931del	ENSP00000482794.1:p.Thr1644ProfsTer2
ENST00000614895.4:c.4494+1421_4494+1422del	ENSP00000478512.1:n.4494+1421_4494+1422del
ENST00000615043.1:c.530_531del
ENST00000616114.4:c.4476+1421_4476+1422del	ENSP00000483745.1:n.4476+1421_4476+1422del
ENST00000617271.4:c.*345_*346del	ENSP00000478076.1:n.*345_*346del
ENST00000618301.4:c.831+1421_831+1422del	ENSP00000482780.1:n.831+1421_831+1422del
ENST00000621708.4:c.4497+1421_4497+1422del	ENSP00000484454.1:n.4497+1421_4497+1422del
NM_001142769.1:c.4930_4931del	NP_001136241.1:p.Thr1644ProfsTer2
NM_001142770.1:c.*345_*346del	NP_001136242.1:n.*345_*346del
NM_001142771.1:c.4497+1421_4497+1422del	NP_001136243.1:n.4497+1421_4497+1422del
NM_001142772.1:c.4482+1421_4482+1422del	NP_001136244.1:n.4482+1421_4482+1422del
NM_001142769.2:c.4930_4931del	NP_001136241.1:p.Thr1644ProfsTer2
NM_001142770.2:c.*345_*346del	NP_001136242.1:n.*345_*346del
NM_001354411.1:c.4909_4910del	NP_001341340.1:p.Thr1637ProfsTer2
NM_001354420.1:c.4476+1421_4476+1422del	NP_001341349.1:n.4476+1421_4476+1422del
NM_001354429.1:c.4605+1421_4605+1422del	NP_001341358.1:n.4605+1421_4605+1422del
XM_017016573.2:c.4909_4910del	XP_016872062.1:p.Thr1637ProfsTer2
XR_001747192.2:n.10963+1421_10963+1422del
XR_001747193.2:n.10954+1421_10954+1422del
NM_001142769.3:c.4930_4931del	NP_001136241.1:p.Thr1644ProfsTer2
NM_001142770.3:c.*345_*346del	NP_001136242.1:n.*345_*346del
NM_001142771.2:c.4497+1421_4497+1422del	NP_001136243.1:n.4497+1421_4497+1422del
NM_001142772.2:c.4482+1421_4482+1422del	NP_001136244.1:n.4482+1421_4482+1422del
NM_001354411.2:c.4909_4910del	NP_001341340.1:p.Thr1637ProfsTer2
NM_001354420.2:c.4476+1421_4476+1422del	NP_001341349.1:n.4476+1421_4476+1422del
NM_001354429.2:c.4605+1421_4605+1422del	NP_001341358.1:n.4605+1421_4605+1422del
NM_001384140.1:c.4671+1421_4671+1422del MANE Select	NP_001371069.1:n.4671+1421_4671+1422del