Canonical Allele Identifier: CA1910830382

Gene: PCDH15

Linked Data

• ClinVar Variation Id: 1027565
• ClinVar RCV Id: RCV001328030
• dbSNP Id: rs2079481708

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53866692_53866693del , CM000672.2:g.53866692_53866693del	GRCh38
NC_000010.10:g.55626452_55626453del , CM000672.1:g.55626452_55626453del	GRCh37
NC_000010.9:g.55296458_55296459del	NCBI36
NG_009191.2:g.939600_939601del
NG_009191.3:g.1767491_1767492del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613657.6:c.3703_3704del	ENSP00000482794.1:p.Ile1235CysfsTer3
ENST00000320301.11:c.3667_3668del MANE Plus Clinical	ENSP00000322604.6:p.Ile1223CysfsTer3
ENST00000395445.6:c.3688_3689del	ENSP00000378832.2:p.Ile1230CysfsTer3
ENST00000613657.5:c.3703_3704del	ENSP00000482794.1:p.Ile1235CysfsTer3
ENST00000642496.1:c.2526_2527del
ENST00000644397.2:c.3667_3668del MANE Select	ENSP00000495195.1:p.Ile1223CysfsTer3
ENST00000320301.10:c.3667_3668del	ENSP00000322604.6:p.Ile1223CysfsTer3
ENST00000361849.7:c.3667_3668del	ENSP00000354950.3:p.Ile1223CysfsTer3
ENST00000373956.7:c.*1622_*1623del	ENSP00000363067.4:n.*1622_*1623del
ENST00000373957.7:c.3682_3683del	ENSP00000363068.4:p.Ile1228CysfsTer3
ENST00000373965.6:c.3667_3668del	ENSP00000363076.3:p.Ile1223CysfsTer3
ENST00000395430.5:c.3667_3668del	ENSP00000378818.1:p.Ile1223CysfsTer3
ENST00000395432.6:c.3556_3557del	ENSP00000378820.2:p.Ile1186CysfsTer3
ENST00000395433.5:c.3601_3602del	ENSP00000378821.1:p.Ile1201CysfsTer3
ENST00000395438.5:c.3667_3668del	ENSP00000378826.2:p.Ile1223CysfsTer3
ENST00000395440.5:c.1306-57146_1306-57145del	ENSP00000378827.1:n.1306-57146_1306-57145del
ENST00000395442.5:c.1099-57146_1099-57145del	ENSP00000378829.1:n.1099-57146_1099-57145del
ENST00000395445.5:c.3688_3689del	ENSP00000378832.2:p.Ile1230CysfsTer3
ENST00000395446.5:c.2092-57146_2092-57145del	ENSP00000378833.1:n.2092-57146_2092-57145del
ENST00000409834.5:c.2500_2501del	ENSP00000386693.1:p.Ile834CysfsTer3
ENST00000414367.5:c.877-26196_877-26195del	ENSP00000412531.1:n.877-26196_877-26195del
ENST00000414778.5:c.3667_3668del	ENSP00000410304.2:p.Ile1223CysfsTer3
ENST00000437009.5:c.3454_3455del	ENSP00000412628.2:p.Ile1152CysfsTer3
ENST00000448885.5:c.*1622_*1623del	ENSP00000412320.1:n.*1622_*1623del
ENST00000463095.2:n.686_687del
ENST00000495484.5:c.-24-9429_-24-9428del	ENSP00000480780.1:n.-24-9429_-24-9428del
ENST00000612394.4:c.3703_3704del	ENSP00000482921.1:p.Ile1235CysfsTer3
ENST00000613657.4:c.3703_3704del	ENSP00000482794.1:p.Ile1235CysfsTer3
ENST00000614895.4:c.3682_3683del	ENSP00000478512.1:p.Ile1228CysfsTer3
ENST00000616114.4:c.3667_3668del	ENSP00000483745.1:p.Ile1223CysfsTer3
ENST00000617051.4:c.3682_3683del	ENSP00000484703.1:p.Ile1228CysfsTer3
ENST00000617271.4:c.3667_3668del	ENSP00000478076.1:p.Ile1223CysfsTer3
ENST00000621708.4:c.3682_3683del	ENSP00000484454.1:p.Ile1228CysfsTer3
ENST00000622048.4:c.3454_3455del	ENSP00000482329.1:p.Ile1152CysfsTer3
NM_001142763.1:c.3682_3683del	NP_001136235.1:p.Ile1228CysfsTer3
NM_001142764.1:c.3667_3668del	NP_001136236.1:p.Ile1223CysfsTer3
NM_001142765.1:c.3454_3455del	NP_001136237.1:p.Ile1152CysfsTer3
NM_001142766.1:c.3667_3668del	NP_001136238.1:p.Ile1223CysfsTer3
NM_001142767.1:c.3556_3557del	NP_001136239.1:p.Ile1186CysfsTer3
NM_001142768.1:c.3601_3602del	NP_001136240.1:p.Ile1201CysfsTer3
NM_001142769.1:c.3703_3704del	NP_001136241.1:p.Ile1235CysfsTer3
NM_001142770.1:c.3667_3668del	NP_001136242.1:p.Ile1223CysfsTer3
NM_001142771.1:c.3682_3683del	NP_001136243.1:p.Ile1228CysfsTer3
NM_001142772.1:c.3667_3668del	NP_001136244.1:p.Ile1223CysfsTer3
NM_001142773.1:c.3601_3602del	NP_001136245.1:p.Ile1201CysfsTer3
NM_033056.3:c.3667_3668del	NP_149045.3:p.Ile1223CysfsTer3
NM_001142769.2:c.3703_3704del	NP_001136241.1:p.Ile1235CysfsTer3
NM_001142770.2:c.3667_3668del	NP_001136242.1:p.Ile1223CysfsTer3
NM_001354404.1:c.3601_3602del	NP_001341333.1:p.Ile1201CysfsTer3
NM_001354411.1:c.3688_3689del	NP_001341340.1:p.Ile1230CysfsTer3
NM_001354420.1:c.3667_3668del	NP_001341349.1:p.Ile1223CysfsTer3
NM_001354429.1:c.3667_3668del	NP_001341358.1:p.Ile1223CysfsTer3
XM_017016573.2:c.3682_3683del	XP_016872062.1:p.Ile1228CysfsTer3
XR_001747192.2:n.4680_4681del
XR_001747193.2:n.4680_4681del
NM_001142763.2:c.3682_3683del	NP_001136235.1:p.Ile1228CysfsTer3
NM_001142764.2:c.3667_3668del	NP_001136236.1:p.Ile1223CysfsTer3
NM_001142765.2:c.3454_3455del	NP_001136237.1:p.Ile1152CysfsTer3
NM_001142766.2:c.3667_3668del	NP_001136238.1:p.Ile1223CysfsTer3
NM_001142768.2:c.3601_3602del	NP_001136240.1:p.Ile1201CysfsTer3
NM_001142769.3:c.3703_3704del	NP_001136241.1:p.Ile1235CysfsTer3
NM_001142770.3:c.3667_3668del	NP_001136242.1:p.Ile1223CysfsTer3
NM_001142771.2:c.3682_3683del	NP_001136243.1:p.Ile1228CysfsTer3
NM_001142772.2:c.3667_3668del	NP_001136244.1:p.Ile1223CysfsTer3
NM_001142773.2:c.3601_3602del	NP_001136245.1:p.Ile1201CysfsTer3
NM_001354411.2:c.3688_3689del	NP_001341340.1:p.Ile1230CysfsTer3
NM_001354420.2:c.3667_3668del	NP_001341349.1:p.Ile1223CysfsTer3
NM_001354429.2:c.3667_3668del	NP_001341358.1:p.Ile1223CysfsTer3
NM_033056.4:c.3667_3668del MANE Plus Clinical	NP_149045.3:p.Ile1223CysfsTer3
NM_001142767.2:c.3556_3557del	NP_001136239.1:p.Ile1186CysfsTer3
NM_001354404.2:c.3601_3602del	NP_001341333.1:p.Ile1201CysfsTer3
NM_001384140.1:c.3667_3668del MANE Select	NP_001371069.1:p.Ile1223CysfsTer3