Canonical Allele Identifier: CA593500078

Gene: PCDH15

Linked Data

• dbSNP Id: rs1355763966
• gnomAD v2: 10-55583282-TAGAA-T
• gnomAD v3: 10-53823522-TAGAA-T
• gnomAD v4: 10-53823522-TAGAA-T
• MyVariant Identifiers: chr10:g.55583283_55583286del (hg19) ; chr10:g.53823523_53823526del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53823525_53823528del , CM000672.2:g.53823525_53823528del	GRCh38
NC_000010.10:g.55583285_55583288del , CM000672.1:g.55583285_55583288del	GRCh37
NC_000010.9:g.55253291_55253294del	NCBI36
NG_009191.2:g.982766_982769del
NG_009191.3:g.1810657_1810660del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613657.6:c.4409+1610_4409+1613del	ENSP00000482794.1:n.4409+1610_4409+1613del
ENST00000320301.11:c.4368-168_4368-165del MANE Plus Clinical	ENSP00000322604.6:n.4368-168_4368-165del
ENST00000395445.6:c.4388+3867_4388+3870del	ENSP00000378832.2:n.4388+3867_4388+3870del
ENST00000613657.5:c.4409+1610_4409+1613del	ENSP00000482794.1:n.4409+1610_4409+1613del
ENST00000642496.1:c.3227-3296_3227-3293del
ENST00000644397.2:c.4368-3296_4368-3293del MANE Select	ENSP00000495195.1:n.4368-3296_4368-3293del
ENST00000320301.10:c.4368-168_4368-165del	ENSP00000322604.6:n.4368-168_4368-165del
ENST00000361849.7:c.4374-168_4374-165del	ENSP00000354950.3:n.4374-168_4374-165del
ENST00000373956.7:c.*2323-168_*2323-165del	ENSP00000363067.4:n.*2323-168_*2323-165del
ENST00000373957.7:c.4389-168_4389-165del	ENSP00000363068.4:n.4389-168_4389-165del
ENST00000373965.6:c.4373+1610_4373+1613del	ENSP00000363076.3:n.4373+1610_4373+1613del
ENST00000395430.5:c.4359-168_4359-165del	ENSP00000378818.1:n.4359-168_4359-165del
ENST00000395432.6:c.4248-168_4248-165del	ENSP00000378820.2:n.4248-168_4248-165del
ENST00000395433.5:c.4299-168_4299-165del	ENSP00000378821.1:n.4299-168_4299-165del
ENST00000395438.5:c.4371+3866_4371+3869del	ENSP00000378826.2:n.4371+3866_4371+3869del
ENST00000395440.5:c.1306-13980_1306-13977del	ENSP00000378827.1:n.1306-13980_1306-13977del
ENST00000395442.5:c.1099-13980_1099-13977del	ENSP00000378829.1:n.1099-13980_1099-13977del
ENST00000395445.5:c.4388+3867_4388+3870del	ENSP00000378832.2:n.4388+3867_4388+3870del
ENST00000395446.5:c.2092-13980_2092-13977del	ENSP00000378833.1:n.2092-13980_2092-13977del
ENST00000409834.5:c.3206+1610_3206+1613del	ENSP00000386693.1:n.3206+1610_3206+1613del
ENST00000414367.5:c.*447+3867_*447+3870del	ENSP00000412531.1:n.*447+3867_*447+3870del
ENST00000414778.5:c.4370+3867_4370+3870del	ENSP00000410304.2:n.4370+3867_4370+3870del
ENST00000437009.5:c.4161-168_4161-165del	ENSP00000412628.2:n.4161-168_4161-165del
ENST00000448885.5:c.*2329-168_*2329-165del	ENSP00000412320.1:n.*2329-168_*2329-165del
ENST00000463095.2:n.1387-168_1387-165del
ENST00000495484.5:c.462-5513_462-5510del	ENSP00000480780.1:n.462-5513_462-5510del
ENST00000612394.4:c.4406+3867_4406+3870del	ENSP00000482921.1:n.4406+3867_4406+3870del
ENST00000613657.4:c.4409+1610_4409+1613del	ENSP00000482794.1:n.4409+1610_4409+1613del
ENST00000614895.4:c.4385+3867_4385+3870del	ENSP00000478512.1:n.4385+3867_4385+3870del
ENST00000616114.4:c.4367+3867_4367+3870del	ENSP00000483745.1:n.4367+3867_4367+3870del
ENST00000617051.4:c.4386-159_4386-156del	ENSP00000484703.1:n.4386-159_4386-156del
ENST00000617271.4:c.4373+1610_4373+1613del	ENSP00000478076.1:n.4373+1610_4373+1613del
ENST00000618301.4:c.593+3867_593+3870del	ENSP00000482780.1:n.593+3867_593+3870del
ENST00000621708.4:c.4388+1610_4388+1613del	ENSP00000484454.1:n.4388+1610_4388+1613del
ENST00000622048.4:c.4158-159_4158-156del	ENSP00000482329.1:n.4158-159_4158-156del
NM_001142763.1:c.4389-168_4389-165del	NP_001136235.1:n.4389-168_4389-165del
NM_001142764.1:c.4374-168_4374-165del	NP_001136236.1:n.4374-168_4374-165del
NM_001142765.1:c.4161-168_4161-165del	NP_001136237.1:n.4161-168_4161-165del
NM_001142766.1:c.4359-168_4359-165del	NP_001136238.1:n.4359-168_4359-165del
NM_001142767.1:c.4248-168_4248-165del	NP_001136239.1:n.4248-168_4248-165del
NM_001142768.1:c.4308-168_4308-165del	NP_001136240.1:n.4308-168_4308-165del
NM_001142769.1:c.4409+1610_4409+1613del	NP_001136241.1:n.4409+1610_4409+1613del
NM_001142770.1:c.4373+1610_4373+1613del	NP_001136242.1:n.4373+1610_4373+1613del
NM_001142771.1:c.4388+1610_4388+1613del	NP_001136243.1:n.4388+1610_4388+1613del
NM_001142772.1:c.4373+1610_4373+1613del	NP_001136244.1:n.4373+1610_4373+1613del
NM_001142773.1:c.4299-168_4299-165del	NP_001136245.1:n.4299-168_4299-165del
NM_033056.3:c.4368-168_4368-165del	NP_149045.3:n.4368-168_4368-165del
NM_001142769.2:c.4409+1610_4409+1613del	NP_001136241.1:n.4409+1610_4409+1613del
NM_001142770.2:c.4373+1610_4373+1613del	NP_001136242.1:n.4373+1610_4373+1613del
NM_001354404.1:c.4302-168_4302-165del	NP_001341333.1:n.4302-168_4302-165del
NM_001354411.1:c.4388+3867_4388+3870del	NP_001341340.1:n.4388+3867_4388+3870del
NM_001354420.1:c.4367+3867_4367+3870del	NP_001341349.1:n.4367+3867_4367+3870del
NM_001354429.1:c.4367+3867_4367+3870del	NP_001341358.1:n.4367+3867_4367+3870del
XM_017016573.2:c.4388+1610_4388+1613del	XP_016872062.1:n.4388+1610_4388+1613del
XR_001747192.2:n.5381-168_5381-165del
XR_001747193.2:n.5372-168_5372-165del
NM_001142763.2:c.4389-168_4389-165del	NP_001136235.1:n.4389-168_4389-165del
NM_001142764.2:c.4374-168_4374-165del	NP_001136236.1:n.4374-168_4374-165del
NM_001142765.2:c.4161-168_4161-165del	NP_001136237.1:n.4161-168_4161-165del
NM_001142766.2:c.4359-168_4359-165del	NP_001136238.1:n.4359-168_4359-165del
NM_001142768.2:c.4308-168_4308-165del	NP_001136240.1:n.4308-168_4308-165del
NM_001142769.3:c.4409+1610_4409+1613del	NP_001136241.1:n.4409+1610_4409+1613del
NM_001142770.3:c.4373+1610_4373+1613del	NP_001136242.1:n.4373+1610_4373+1613del
NM_001142771.2:c.4388+1610_4388+1613del	NP_001136243.1:n.4388+1610_4388+1613del
NM_001142772.2:c.4373+1610_4373+1613del	NP_001136244.1:n.4373+1610_4373+1613del
NM_001142773.2:c.4299-168_4299-165del	NP_001136245.1:n.4299-168_4299-165del
NM_001354411.2:c.4388+3867_4388+3870del	NP_001341340.1:n.4388+3867_4388+3870del
NM_001354420.2:c.4367+3867_4367+3870del	NP_001341349.1:n.4367+3867_4367+3870del
NM_001354429.2:c.4367+3867_4367+3870del	NP_001341358.1:n.4367+3867_4367+3870del
NM_033056.4:c.4368-168_4368-165del MANE Plus Clinical	NP_149045.3:n.4368-168_4368-165del
NM_001142767.2:c.4248-168_4248-165del	NP_001136239.1:n.4248-168_4248-165del
NM_001354404.2:c.4302-168_4302-165del	NP_001341333.1:n.4302-168_4302-165del
NM_001384140.1:c.4368-3296_4368-3293del MANE Select	NP_001371069.1:n.4368-3296_4368-3293del