Canonical Allele Identifier: CA928498301

Gene: PCDH15

Linked Data

• dbSNP Id: rs2076458629
• gnomAD v3: 10-53823539-A-AAAATCTTAGAGTTGTGAGAAGAATGAGAAATGTAAATGAAAAAAAAAGTACTCATC
• gnomAD v4: 10-53823539-A-AAAATCTTAGAGTTGTGAGAAGAATGAGAAATGTAAATGAAAAAAAAAGTACTCATC

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53823540_53823595dup , CM000672.2:g.53823540_53823595dup	GRCh38
NC_000010.10:g.55583300_55583355dup , CM000672.1:g.55583300_55583355dup	GRCh37
NC_000010.9:g.55253306_55253361dup	NCBI36
NG_009191.2:g.982697_982752dup
NG_009191.3:g.1810588_1810643dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613657.6:c.4409+1541_4409+1596dup	ENSP00000482794.1:n.4409+1541_4409+1596dup
ENST00000320301.11:c.4368-237_4368-182dup MANE Plus Clinical	ENSP00000322604.6:n.4368-237_4368-182dup
ENST00000395445.6:c.4388+3798_4388+3853dup	ENSP00000378832.2:n.4388+3798_4388+3853dup
ENST00000613657.5:c.4409+1541_4409+1596dup	ENSP00000482794.1:n.4409+1541_4409+1596dup
ENST00000642496.1:c.3227-3365_3227-3310dup
ENST00000644397.2:c.4368-3365_4368-3310dup MANE Select	ENSP00000495195.1:n.4368-3365_4368-3310dup
ENST00000320301.10:c.4368-237_4368-182dup	ENSP00000322604.6:n.4368-237_4368-182dup
ENST00000361849.7:c.4374-237_4374-182dup	ENSP00000354950.3:n.4374-237_4374-182dup
ENST00000373956.7:c.*2323-237_*2323-182dup	ENSP00000363067.4:n.*2323-237_*2323-182dup
ENST00000373957.7:c.4389-237_4389-182dup	ENSP00000363068.4:n.4389-237_4389-182dup
ENST00000373965.6:c.4373+1541_4373+1596dup	ENSP00000363076.3:n.4373+1541_4373+1596dup
ENST00000395430.5:c.4359-237_4359-182dup	ENSP00000378818.1:n.4359-237_4359-182dup
ENST00000395432.6:c.4248-237_4248-182dup	ENSP00000378820.2:n.4248-237_4248-182dup
ENST00000395433.5:c.4299-237_4299-182dup	ENSP00000378821.1:n.4299-237_4299-182dup
ENST00000395438.5:c.4371+3797_4371+3852dup	ENSP00000378826.2:n.4371+3797_4371+3852dup
ENST00000395440.5:c.1306-14049_1306-13994dup	ENSP00000378827.1:n.1306-14049_1306-13994dup
ENST00000395442.5:c.1099-14049_1099-13994dup	ENSP00000378829.1:n.1099-14049_1099-13994dup
ENST00000395445.5:c.4388+3798_4388+3853dup	ENSP00000378832.2:n.4388+3798_4388+3853dup
ENST00000395446.5:c.2092-14049_2092-13994dup	ENSP00000378833.1:n.2092-14049_2092-13994dup
ENST00000409834.5:c.3206+1541_3206+1596dup	ENSP00000386693.1:n.3206+1541_3206+1596dup
ENST00000414367.5:c.*447+3798_*447+3853dup	ENSP00000412531.1:n.*447+3798_*447+3853dup
ENST00000414778.5:c.4370+3798_4370+3853dup	ENSP00000410304.2:n.4370+3798_4370+3853dup
ENST00000437009.5:c.4161-237_4161-182dup	ENSP00000412628.2:n.4161-237_4161-182dup
ENST00000448885.5:c.*2329-237_*2329-182dup	ENSP00000412320.1:n.*2329-237_*2329-182dup
ENST00000463095.2:n.1387-237_1387-182dup
ENST00000495484.5:c.462-5582_462-5527dup	ENSP00000480780.1:n.462-5582_462-5527dup
ENST00000612394.4:c.4406+3798_4406+3853dup	ENSP00000482921.1:n.4406+3798_4406+3853dup
ENST00000613657.4:c.4409+1541_4409+1596dup	ENSP00000482794.1:n.4409+1541_4409+1596dup
ENST00000614895.4:c.4385+3798_4385+3853dup	ENSP00000478512.1:n.4385+3798_4385+3853dup
ENST00000616114.4:c.4367+3798_4367+3853dup	ENSP00000483745.1:n.4367+3798_4367+3853dup
ENST00000617051.4:c.4386-228_4386-173dup	ENSP00000484703.1:n.4386-228_4386-173dup
ENST00000617271.4:c.4373+1541_4373+1596dup	ENSP00000478076.1:n.4373+1541_4373+1596dup
ENST00000618301.4:c.593+3798_593+3853dup	ENSP00000482780.1:n.593+3798_593+3853dup
ENST00000621708.4:c.4388+1541_4388+1596dup	ENSP00000484454.1:n.4388+1541_4388+1596dup
ENST00000622048.4:c.4158-228_4158-173dup	ENSP00000482329.1:n.4158-228_4158-173dup
NM_001142763.1:c.4389-237_4389-182dup	NP_001136235.1:n.4389-237_4389-182dup
NM_001142764.1:c.4374-237_4374-182dup	NP_001136236.1:n.4374-237_4374-182dup
NM_001142765.1:c.4161-237_4161-182dup	NP_001136237.1:n.4161-237_4161-182dup
NM_001142766.1:c.4359-237_4359-182dup	NP_001136238.1:n.4359-237_4359-182dup
NM_001142767.1:c.4248-237_4248-182dup	NP_001136239.1:n.4248-237_4248-182dup
NM_001142768.1:c.4308-237_4308-182dup	NP_001136240.1:n.4308-237_4308-182dup
NM_001142769.1:c.4409+1541_4409+1596dup	NP_001136241.1:n.4409+1541_4409+1596dup
NM_001142770.1:c.4373+1541_4373+1596dup	NP_001136242.1:n.4373+1541_4373+1596dup
NM_001142771.1:c.4388+1541_4388+1596dup	NP_001136243.1:n.4388+1541_4388+1596dup
NM_001142772.1:c.4373+1541_4373+1596dup	NP_001136244.1:n.4373+1541_4373+1596dup
NM_001142773.1:c.4299-237_4299-182dup	NP_001136245.1:n.4299-237_4299-182dup
NM_033056.3:c.4368-237_4368-182dup	NP_149045.3:n.4368-237_4368-182dup
NM_001142769.2:c.4409+1541_4409+1596dup	NP_001136241.1:n.4409+1541_4409+1596dup
NM_001142770.2:c.4373+1541_4373+1596dup	NP_001136242.1:n.4373+1541_4373+1596dup
NM_001354404.1:c.4302-237_4302-182dup	NP_001341333.1:n.4302-237_4302-182dup
NM_001354411.1:c.4388+3798_4388+3853dup	NP_001341340.1:n.4388+3798_4388+3853dup
NM_001354420.1:c.4367+3798_4367+3853dup	NP_001341349.1:n.4367+3798_4367+3853dup
NM_001354429.1:c.4367+3798_4367+3853dup	NP_001341358.1:n.4367+3798_4367+3853dup
XM_017016573.2:c.4388+1541_4388+1596dup	XP_016872062.1:n.4388+1541_4388+1596dup
XR_001747192.2:n.5381-237_5381-182dup
XR_001747193.2:n.5372-237_5372-182dup
NM_001142763.2:c.4389-237_4389-182dup	NP_001136235.1:n.4389-237_4389-182dup
NM_001142764.2:c.4374-237_4374-182dup	NP_001136236.1:n.4374-237_4374-182dup
NM_001142765.2:c.4161-237_4161-182dup	NP_001136237.1:n.4161-237_4161-182dup
NM_001142766.2:c.4359-237_4359-182dup	NP_001136238.1:n.4359-237_4359-182dup
NM_001142768.2:c.4308-237_4308-182dup	NP_001136240.1:n.4308-237_4308-182dup
NM_001142769.3:c.4409+1541_4409+1596dup	NP_001136241.1:n.4409+1541_4409+1596dup
NM_001142770.3:c.4373+1541_4373+1596dup	NP_001136242.1:n.4373+1541_4373+1596dup
NM_001142771.2:c.4388+1541_4388+1596dup	NP_001136243.1:n.4388+1541_4388+1596dup
NM_001142772.2:c.4373+1541_4373+1596dup	NP_001136244.1:n.4373+1541_4373+1596dup
NM_001142773.2:c.4299-237_4299-182dup	NP_001136245.1:n.4299-237_4299-182dup
NM_001354411.2:c.4388+3798_4388+3853dup	NP_001341340.1:n.4388+3798_4388+3853dup
NM_001354420.2:c.4367+3798_4367+3853dup	NP_001341349.1:n.4367+3798_4367+3853dup
NM_001354429.2:c.4367+3798_4367+3853dup	NP_001341358.1:n.4367+3798_4367+3853dup
NM_033056.4:c.4368-237_4368-182dup MANE Plus Clinical	NP_149045.3:n.4368-237_4368-182dup
NM_001142767.2:c.4248-237_4248-182dup	NP_001136239.1:n.4248-237_4248-182dup
NM_001354404.2:c.4302-237_4302-182dup	NP_001341333.1:n.4302-237_4302-182dup
NM_001384140.1:c.4368-3365_4368-3310dup MANE Select	NP_001371069.1:n.4368-3365_4368-3310dup