Canonical Allele Identifier: CA5504972

Gene: PCDH15

Linked Data

• ClinVar Variation Id: 1180252
• ClinVar RCV Id: RCV001537421 ; RCV001832732
• dbSNP Id: rs568470164
• ExAC: 10:55581761 GTAGA / G
• gnomAD v2: 10-55581761-GTAGA-G
• gnomAD v3: 10-53822001-GTAGA-G
• gnomAD v4: 10-53822001-GTAGA-G
• MyVariant Identifiers: chr10:g.55581762_55581765del (hg19) ; chr10:g.53822002_53822005del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53822005_53822008del , CM000672.2:g.53822005_53822008del	GRCh38
NC_000010.10:g.55581765_55581768del , CM000672.1:g.55581765_55581768del	GRCh37
NC_000010.9:g.55251771_55251774del	NCBI36
NG_009191.2:g.984287_984290del
NG_009191.3:g.1812178_1812181del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613657.6:c.4409+3131_4409+3134del	ENSP00000482794.1:n.4409+3131_4409+3134del
ENST00000320301.11:c.5721_5724del MANE Plus Clinical	ENSP00000322604.6:p.Leu1908AlafsTer15
ENST00000395445.6:c.4388+5388_4388+5391del	ENSP00000378832.2:n.4388+5388_4388+5391del
ENST00000613657.5:c.4409+3131_4409+3134del	ENSP00000482794.1:n.4409+3131_4409+3134del
ENST00000642496.1:c.3227-1775_3227-1772del
ENST00000644397.2:c.4368-1775_4368-1772del MANE Select	ENSP00000495195.1:n.4368-1775_4368-1772del
ENST00000320301.10:c.5721_5724del	ENSP00000322604.6:p.Leu1908AlafsTer15
ENST00000361849.7:c.5727_5730del	ENSP00000354950.3:p.Leu1910AlafsTer15
ENST00000373956.7:c.*3676_*3679del	ENSP00000363067.4:n.*3676_*3679del
ENST00000373957.7:c.5742_5745del	ENSP00000363068.4:p.Leu1915AlafsTer15
ENST00000373965.6:c.4373+3131_4373+3134del	ENSP00000363076.3:n.4373+3131_4373+3134del
ENST00000395430.5:c.5712_5715del	ENSP00000378818.1:p.Leu1905AlafsTer15
ENST00000395432.6:c.5601_5604del	ENSP00000378820.2:p.Leu1868AlafsTer15
ENST00000395433.5:c.5652_5655del	ENSP00000378821.1:p.Leu1885AlafsTer15
ENST00000395438.5:c.4371+5387_4371+5390del	ENSP00000378826.2:n.4371+5387_4371+5390del
ENST00000395440.5:c.1306-12459_1306-12456del	ENSP00000378827.1:n.1306-12459_1306-12456del
ENST00000395442.5:c.1099-12459_1099-12456del	ENSP00000378829.1:n.1099-12459_1099-12456del
ENST00000395445.5:c.4388+5388_4388+5391del	ENSP00000378832.2:n.4388+5388_4388+5391del
ENST00000395446.5:c.2092-12459_2092-12456del	ENSP00000378833.1:n.2092-12459_2092-12456del
ENST00000409834.5:c.3206+3131_3206+3134del	ENSP00000386693.1:n.3206+3131_3206+3134del
ENST00000414367.5:c.*447+5388_*447+5391del	ENSP00000412531.1:n.*447+5388_*447+5391del
ENST00000414778.5:c.4370+5388_4370+5391del	ENSP00000410304.2:n.4370+5388_4370+5391del
ENST00000437009.5:c.5514_5517del	ENSP00000412628.2:p.Leu1839AlafsTer15
ENST00000448885.5:c.*3682_*3685del	ENSP00000412320.1:n.*3682_*3685del
ENST00000463095.2:n.2740_2743del
ENST00000495484.5:c.462-3992_462-3989del	ENSP00000480780.1:n.462-3992_462-3989del
ENST00000612394.4:c.4406+5388_4406+5391del	ENSP00000482921.1:n.4406+5388_4406+5391del
ENST00000613657.4:c.4409+3131_4409+3134del	ENSP00000482794.1:n.4409+3131_4409+3134del
ENST00000614895.4:c.4385+5388_4385+5391del	ENSP00000478512.1:n.4385+5388_4385+5391del
ENST00000616114.4:c.4367+5388_4367+5391del	ENSP00000483745.1:n.4367+5388_4367+5391del
ENST00000617051.4:c.5748_5751del	ENSP00000484703.1:p.Leu1917AlafsTer15
ENST00000617271.4:c.4373+3131_4373+3134del	ENSP00000478076.1:n.4373+3131_4373+3134del
ENST00000618301.4:c.594-3992_594-3989del	ENSP00000482780.1:n.594-3992_594-3989del
ENST00000621708.4:c.4388+3131_4388+3134del	ENSP00000484454.1:n.4388+3131_4388+3134del
ENST00000622048.4:c.5520_5523del	ENSP00000482329.1:p.Leu1841AlafsTer15
NM_001142763.1:c.5742_5745del	NP_001136235.1:p.Leu1915AlafsTer15
NM_001142764.1:c.5727_5730del	NP_001136236.1:p.Leu1910AlafsTer15
NM_001142765.1:c.5514_5517del	NP_001136237.1:p.Leu1839AlafsTer15
NM_001142766.1:c.5712_5715del	NP_001136238.1:p.Leu1905AlafsTer15
NM_001142767.1:c.5601_5604del	NP_001136239.1:p.Leu1868AlafsTer15
NM_001142768.1:c.5661_5664del	NP_001136240.1:p.Leu1888AlafsTer15
NM_001142769.1:c.4409+3131_4409+3134del	NP_001136241.1:n.4409+3131_4409+3134del
NM_001142770.1:c.4373+3131_4373+3134del	NP_001136242.1:n.4373+3131_4373+3134del
NM_001142771.1:c.4388+3131_4388+3134del	NP_001136243.1:n.4388+3131_4388+3134del
NM_001142772.1:c.4373+3131_4373+3134del	NP_001136244.1:n.4373+3131_4373+3134del
NM_001142773.1:c.5652_5655del	NP_001136245.1:p.Leu1885AlafsTer15
NM_033056.3:c.5721_5724del	NP_149045.3:p.Leu1908AlafsTer15
NM_001142769.2:c.4409+3131_4409+3134del	NP_001136241.1:n.4409+3131_4409+3134del
NM_001142770.2:c.4373+3131_4373+3134del	NP_001136242.1:n.4373+3131_4373+3134del
NM_001354404.1:c.5655_5658del	NP_001341333.1:p.Leu1886AlafsTer15
NM_001354411.1:c.4388+5388_4388+5391del	NP_001341340.1:n.4388+5388_4388+5391del
NM_001354420.1:c.4367+5388_4367+5391del	NP_001341349.1:n.4367+5388_4367+5391del
NM_001354429.1:c.4368-3992_4368-3989del	NP_001341358.1:n.4368-3992_4368-3989del
XM_017016573.2:c.4388+3131_4388+3134del	XP_016872062.1:n.4388+3131_4388+3134del
XR_001747192.2:n.6734_6737del
XR_001747193.2:n.6725_6728del
NM_001142763.2:c.5742_5745del	NP_001136235.1:p.Leu1915AlafsTer15
NM_001142764.2:c.5727_5730del	NP_001136236.1:p.Leu1910AlafsTer15
NM_001142765.2:c.5514_5517del	NP_001136237.1:p.Leu1839AlafsTer15
NM_001142766.2:c.5712_5715del	NP_001136238.1:p.Leu1905AlafsTer15
NM_001142768.2:c.5661_5664del	NP_001136240.1:p.Leu1888AlafsTer15
NM_001142769.3:c.4409+3131_4409+3134del	NP_001136241.1:n.4409+3131_4409+3134del
NM_001142770.3:c.4373+3131_4373+3134del	NP_001136242.1:n.4373+3131_4373+3134del
NM_001142771.2:c.4388+3131_4388+3134del	NP_001136243.1:n.4388+3131_4388+3134del
NM_001142772.2:c.4373+3131_4373+3134del	NP_001136244.1:n.4373+3131_4373+3134del
NM_001142773.2:c.5652_5655del	NP_001136245.1:p.Leu1885AlafsTer15
NM_001354411.2:c.4388+5388_4388+5391del	NP_001341340.1:n.4388+5388_4388+5391del
NM_001354420.2:c.4367+5388_4367+5391del	NP_001341349.1:n.4367+5388_4367+5391del
NM_001354429.2:c.4368-3992_4368-3989del	NP_001341358.1:n.4368-3992_4368-3989del
NM_033056.4:c.5721_5724del MANE Plus Clinical	NP_149045.3:p.Leu1908AlafsTer15
NM_001142767.2:c.5601_5604del	NP_001136239.1:p.Leu1868AlafsTer15
NM_001354404.2:c.5655_5658del	NP_001341333.1:p.Leu1886AlafsTer15
NM_001384140.1:c.4368-1775_4368-1772del MANE Select	NP_001371069.1:n.4368-1775_4368-1772del