Canonical Allele Identifier: CA207219096

Gene: PCDH15

Linked Data

• ClinVar Variation Id: 1638312
• ClinVar RCV Id: RCV002138037
• dbSNP Id: rs928313592
• gnomAD v3: 10-53822383-GGGA-G
• gnomAD v4: 10-53822383-GGGA-G
• MyVariant Identifiers: chr10:g.55582144_55582146del (hg19) ; chr10:g.53822384_53822386del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53822390_53822392del , CM000672.2:g.53822390_53822392del	GRCh38
NC_000010.10:g.55582150_55582152del , CM000672.1:g.55582150_55582152del	GRCh37
NC_000010.9:g.55252156_55252158del	NCBI36
NG_009191.2:g.983906_983908del
NG_009191.3:g.1811797_1811799del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613657.6:c.4409+2750_4409+2752del	ENSP00000482794.1:n.4409+2750_4409+2752del
ENST00000320301.11:c.5340_5342del MANE Plus Clinical	ENSP00000322604.6:p.Pro1781del
ENST00000395445.6:c.4388+5007_4388+5009del	ENSP00000378832.2:n.4388+5007_4388+5009del
ENST00000613657.5:c.4409+2750_4409+2752del	ENSP00000482794.1:n.4409+2750_4409+2752del
ENST00000642496.1:c.3227-2156_3227-2154del
ENST00000644397.2:c.4368-2156_4368-2154del MANE Select	ENSP00000495195.1:n.4368-2156_4368-2154del
ENST00000320301.10:c.5340_5342del	ENSP00000322604.6:p.Pro1781del
ENST00000361849.7:c.5346_5348del	ENSP00000354950.3:p.Pro1783del
ENST00000373956.7:c.*3295_*3297del	ENSP00000363067.4:n.*3295_*3297del
ENST00000373957.7:c.5361_5363del	ENSP00000363068.4:p.Pro1788del
ENST00000373965.6:c.4373+2750_4373+2752del	ENSP00000363076.3:n.4373+2750_4373+2752del
ENST00000395430.5:c.5331_5333del	ENSP00000378818.1:p.Pro1778del
ENST00000395432.6:c.5220_5222del	ENSP00000378820.2:p.Pro1741del
ENST00000395433.5:c.5271_5273del	ENSP00000378821.1:p.Pro1758del
ENST00000395438.5:c.4371+5006_4371+5008del	ENSP00000378826.2:n.4371+5006_4371+5008del
ENST00000395440.5:c.1306-12840_1306-12838del	ENSP00000378827.1:n.1306-12840_1306-12838del
ENST00000395442.5:c.1099-12840_1099-12838del	ENSP00000378829.1:n.1099-12840_1099-12838del
ENST00000395445.5:c.4388+5007_4388+5009del	ENSP00000378832.2:n.4388+5007_4388+5009del
ENST00000395446.5:c.2092-12840_2092-12838del	ENSP00000378833.1:n.2092-12840_2092-12838del
ENST00000409834.5:c.3206+2750_3206+2752del	ENSP00000386693.1:n.3206+2750_3206+2752del
ENST00000414367.5:c.*447+5007_*447+5009del	ENSP00000412531.1:n.*447+5007_*447+5009del
ENST00000414778.5:c.4370+5007_4370+5009del	ENSP00000410304.2:n.4370+5007_4370+5009del
ENST00000437009.5:c.5133_5135del	ENSP00000412628.2:p.Pro1712del
ENST00000448885.5:c.*3301_*3303del	ENSP00000412320.1:n.*3301_*3303del
ENST00000463095.2:n.2359_2361del
ENST00000495484.5:c.462-4373_462-4371del	ENSP00000480780.1:n.462-4373_462-4371del
ENST00000612394.4:c.4406+5007_4406+5009del	ENSP00000482921.1:n.4406+5007_4406+5009del
ENST00000613657.4:c.4409+2750_4409+2752del	ENSP00000482794.1:n.4409+2750_4409+2752del
ENST00000614895.4:c.4385+5007_4385+5009del	ENSP00000478512.1:n.4385+5007_4385+5009del
ENST00000616114.4:c.4367+5007_4367+5009del	ENSP00000483745.1:n.4367+5007_4367+5009del
ENST00000617051.4:c.5367_5369del	ENSP00000484703.1:p.Pro1790del
ENST00000617271.4:c.4373+2750_4373+2752del	ENSP00000478076.1:n.4373+2750_4373+2752del
ENST00000618301.4:c.594-4373_594-4371del	ENSP00000482780.1:n.594-4373_594-4371del
ENST00000621708.4:c.4388+2750_4388+2752del	ENSP00000484454.1:n.4388+2750_4388+2752del
ENST00000622048.4:c.5139_5141del	ENSP00000482329.1:p.Pro1714del
NM_001142763.1:c.5361_5363del	NP_001136235.1:p.Pro1788del
NM_001142764.1:c.5346_5348del	NP_001136236.1:p.Pro1783del
NM_001142765.1:c.5133_5135del	NP_001136237.1:p.Pro1712del
NM_001142766.1:c.5331_5333del	NP_001136238.1:p.Pro1778del
NM_001142767.1:c.5220_5222del	NP_001136239.1:p.Pro1741del
NM_001142768.1:c.5280_5282del	NP_001136240.1:p.Pro1761del
NM_001142769.1:c.4409+2750_4409+2752del	NP_001136241.1:n.4409+2750_4409+2752del
NM_001142770.1:c.4373+2750_4373+2752del	NP_001136242.1:n.4373+2750_4373+2752del
NM_001142771.1:c.4388+2750_4388+2752del	NP_001136243.1:n.4388+2750_4388+2752del
NM_001142772.1:c.4373+2750_4373+2752del	NP_001136244.1:n.4373+2750_4373+2752del
NM_001142773.1:c.5271_5273del	NP_001136245.1:p.Pro1758del
NM_033056.3:c.5340_5342del	NP_149045.3:p.Pro1781del
NM_001142769.2:c.4409+2750_4409+2752del	NP_001136241.1:n.4409+2750_4409+2752del
NM_001142770.2:c.4373+2750_4373+2752del	NP_001136242.1:n.4373+2750_4373+2752del
NM_001354404.1:c.5274_5276del	NP_001341333.1:p.Pro1759del
NM_001354411.1:c.4388+5007_4388+5009del	NP_001341340.1:n.4388+5007_4388+5009del
NM_001354420.1:c.4367+5007_4367+5009del	NP_001341349.1:n.4367+5007_4367+5009del
NM_001354429.1:c.4368-4373_4368-4371del	NP_001341358.1:n.4368-4373_4368-4371del
XM_017016573.2:c.4388+2750_4388+2752del	XP_016872062.1:n.4388+2750_4388+2752del
XR_001747192.2:n.6353_6355del
XR_001747193.2:n.6344_6346del
NM_001142763.2:c.5361_5363del	NP_001136235.1:p.Pro1788del
NM_001142764.2:c.5346_5348del	NP_001136236.1:p.Pro1783del
NM_001142765.2:c.5133_5135del	NP_001136237.1:p.Pro1712del
NM_001142766.2:c.5331_5333del	NP_001136238.1:p.Pro1778del
NM_001142768.2:c.5280_5282del	NP_001136240.1:p.Pro1761del
NM_001142769.3:c.4409+2750_4409+2752del	NP_001136241.1:n.4409+2750_4409+2752del
NM_001142770.3:c.4373+2750_4373+2752del	NP_001136242.1:n.4373+2750_4373+2752del
NM_001142771.2:c.4388+2750_4388+2752del	NP_001136243.1:n.4388+2750_4388+2752del
NM_001142772.2:c.4373+2750_4373+2752del	NP_001136244.1:n.4373+2750_4373+2752del
NM_001142773.2:c.5271_5273del	NP_001136245.1:p.Pro1758del
NM_001354411.2:c.4388+5007_4388+5009del	NP_001341340.1:n.4388+5007_4388+5009del
NM_001354420.2:c.4367+5007_4367+5009del	NP_001341349.1:n.4367+5007_4367+5009del
NM_001354429.2:c.4368-4373_4368-4371del	NP_001341358.1:n.4368-4373_4368-4371del
NM_033056.4:c.5340_5342del MANE Plus Clinical	NP_149045.3:p.Pro1781del
NM_001142767.2:c.5220_5222del	NP_001136239.1:p.Pro1741del
NM_001354404.2:c.5274_5276del	NP_001341333.1:p.Pro1759del
NM_001384140.1:c.4368-2156_4368-2154del MANE Select	NP_001371069.1:n.4368-2156_4368-2154del