Canonical Allele Identifier: CA2609212987

Gene: PCDH15

Linked Data

• gnomAD v4: 10-53823813-A-AAAAGT

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53823816_53823820dup , CM000672.2:g.53823816_53823820dup	GRCh38
NC_000010.10:g.55583576_55583580dup , CM000672.1:g.55583576_55583580dup	GRCh37
NC_000010.9:g.55253582_55253586dup	NCBI36
NG_009191.2:g.982474_982478dup
NG_009191.3:g.1810365_1810369dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613657.6:c.4409+1318_4409+1322dup	ENSP00000482794.1:n.4409+1318_4409+1322dup
ENST00000320301.11:c.4368-460_4368-456dup MANE Plus Clinical	ENSP00000322604.6:n.4368-460_4368-456dup
ENST00000395445.6:c.4388+3575_4388+3579dup	ENSP00000378832.2:n.4388+3575_4388+3579dup
ENST00000613657.5:c.4409+1318_4409+1322dup	ENSP00000482794.1:n.4409+1318_4409+1322dup
ENST00000642496.1:c.3226+3575_3226+3579dup
ENST00000644397.2:c.4367+3575_4367+3579dup MANE Select	ENSP00000495195.1:n.4367+3575_4367+3579dup
ENST00000320301.10:c.4368-460_4368-456dup	ENSP00000322604.6:n.4368-460_4368-456dup
ENST00000361849.7:c.4374-460_4374-456dup	ENSP00000354950.3:n.4374-460_4374-456dup
ENST00000373956.7:c.*2323-460_*2323-456dup	ENSP00000363067.4:n.*2323-460_*2323-456dup
ENST00000373957.7:c.4389-460_4389-456dup	ENSP00000363068.4:n.4389-460_4389-456dup
ENST00000373965.6:c.4373+1318_4373+1322dup	ENSP00000363076.3:n.4373+1318_4373+1322dup
ENST00000395430.5:c.4359-460_4359-456dup	ENSP00000378818.1:n.4359-460_4359-456dup
ENST00000395432.6:c.4248-460_4248-456dup	ENSP00000378820.2:n.4248-460_4248-456dup
ENST00000395433.5:c.4299-460_4299-456dup	ENSP00000378821.1:n.4299-460_4299-456dup
ENST00000395438.5:c.4371+3574_4371+3578dup	ENSP00000378826.2:n.4371+3574_4371+3578dup
ENST00000395440.5:c.1306-14272_1306-14268dup	ENSP00000378827.1:n.1306-14272_1306-14268dup
ENST00000395442.5:c.1099-14272_1099-14268dup	ENSP00000378829.1:n.1099-14272_1099-14268dup
ENST00000395445.5:c.4388+3575_4388+3579dup	ENSP00000378832.2:n.4388+3575_4388+3579dup
ENST00000395446.5:c.2092-14272_2092-14268dup	ENSP00000378833.1:n.2092-14272_2092-14268dup
ENST00000409834.5:c.3206+1318_3206+1322dup	ENSP00000386693.1:n.3206+1318_3206+1322dup
ENST00000414367.5:c.*447+3575_*447+3579dup	ENSP00000412531.1:n.*447+3575_*447+3579dup
ENST00000414778.5:c.4370+3575_4370+3579dup	ENSP00000410304.2:n.4370+3575_4370+3579dup
ENST00000437009.5:c.4161-460_4161-456dup	ENSP00000412628.2:n.4161-460_4161-456dup
ENST00000448885.5:c.*2329-460_*2329-456dup	ENSP00000412320.1:n.*2329-460_*2329-456dup
ENST00000463095.2:n.1387-460_1387-456dup
ENST00000495484.5:c.462-5805_462-5801dup	ENSP00000480780.1:n.462-5805_462-5801dup
ENST00000612394.4:c.4406+3575_4406+3579dup	ENSP00000482921.1:n.4406+3575_4406+3579dup
ENST00000613657.4:c.4409+1318_4409+1322dup	ENSP00000482794.1:n.4409+1318_4409+1322dup
ENST00000614895.4:c.4385+3575_4385+3579dup	ENSP00000478512.1:n.4385+3575_4385+3579dup
ENST00000616114.4:c.4367+3575_4367+3579dup	ENSP00000483745.1:n.4367+3575_4367+3579dup
ENST00000617051.4:c.4386-451_4386-447dup	ENSP00000484703.1:n.4386-451_4386-447dup
ENST00000617271.4:c.4373+1318_4373+1322dup	ENSP00000478076.1:n.4373+1318_4373+1322dup
ENST00000618301.4:c.593+3575_593+3579dup	ENSP00000482780.1:n.593+3575_593+3579dup
ENST00000621708.4:c.4388+1318_4388+1322dup	ENSP00000484454.1:n.4388+1318_4388+1322dup
ENST00000622048.4:c.4158-451_4158-447dup	ENSP00000482329.1:n.4158-451_4158-447dup
NM_001142763.1:c.4389-460_4389-456dup	NP_001136235.1:n.4389-460_4389-456dup
NM_001142764.1:c.4374-460_4374-456dup	NP_001136236.1:n.4374-460_4374-456dup
NM_001142765.1:c.4161-460_4161-456dup	NP_001136237.1:n.4161-460_4161-456dup
NM_001142766.1:c.4359-460_4359-456dup	NP_001136238.1:n.4359-460_4359-456dup
NM_001142767.1:c.4248-460_4248-456dup	NP_001136239.1:n.4248-460_4248-456dup
NM_001142768.1:c.4308-460_4308-456dup	NP_001136240.1:n.4308-460_4308-456dup
NM_001142769.1:c.4409+1318_4409+1322dup	NP_001136241.1:n.4409+1318_4409+1322dup
NM_001142770.1:c.4373+1318_4373+1322dup	NP_001136242.1:n.4373+1318_4373+1322dup
NM_001142771.1:c.4388+1318_4388+1322dup	NP_001136243.1:n.4388+1318_4388+1322dup
NM_001142772.1:c.4373+1318_4373+1322dup	NP_001136244.1:n.4373+1318_4373+1322dup
NM_001142773.1:c.4299-460_4299-456dup	NP_001136245.1:n.4299-460_4299-456dup
NM_033056.3:c.4368-460_4368-456dup	NP_149045.3:n.4368-460_4368-456dup
NM_001142769.2:c.4409+1318_4409+1322dup	NP_001136241.1:n.4409+1318_4409+1322dup
NM_001142770.2:c.4373+1318_4373+1322dup	NP_001136242.1:n.4373+1318_4373+1322dup
NM_001354404.1:c.4302-460_4302-456dup	NP_001341333.1:n.4302-460_4302-456dup
NM_001354411.1:c.4388+3575_4388+3579dup	NP_001341340.1:n.4388+3575_4388+3579dup
NM_001354420.1:c.4367+3575_4367+3579dup	NP_001341349.1:n.4367+3575_4367+3579dup
NM_001354429.1:c.4367+3575_4367+3579dup	NP_001341358.1:n.4367+3575_4367+3579dup
XM_017016573.2:c.4388+1318_4388+1322dup	XP_016872062.1:n.4388+1318_4388+1322dup
XR_001747192.2:n.5381-460_5381-456dup
XR_001747193.2:n.5372-460_5372-456dup
NM_001142763.2:c.4389-460_4389-456dup	NP_001136235.1:n.4389-460_4389-456dup
NM_001142764.2:c.4374-460_4374-456dup	NP_001136236.1:n.4374-460_4374-456dup
NM_001142765.2:c.4161-460_4161-456dup	NP_001136237.1:n.4161-460_4161-456dup
NM_001142766.2:c.4359-460_4359-456dup	NP_001136238.1:n.4359-460_4359-456dup
NM_001142768.2:c.4308-460_4308-456dup	NP_001136240.1:n.4308-460_4308-456dup
NM_001142769.3:c.4409+1318_4409+1322dup	NP_001136241.1:n.4409+1318_4409+1322dup
NM_001142770.3:c.4373+1318_4373+1322dup	NP_001136242.1:n.4373+1318_4373+1322dup
NM_001142771.2:c.4388+1318_4388+1322dup	NP_001136243.1:n.4388+1318_4388+1322dup
NM_001142772.2:c.4373+1318_4373+1322dup	NP_001136244.1:n.4373+1318_4373+1322dup
NM_001142773.2:c.4299-460_4299-456dup	NP_001136245.1:n.4299-460_4299-456dup
NM_001354411.2:c.4388+3575_4388+3579dup	NP_001341340.1:n.4388+3575_4388+3579dup
NM_001354420.2:c.4367+3575_4367+3579dup	NP_001341349.1:n.4367+3575_4367+3579dup
NM_001354429.2:c.4367+3575_4367+3579dup	NP_001341358.1:n.4367+3575_4367+3579dup
NM_033056.4:c.4368-460_4368-456dup MANE Plus Clinical	NP_149045.3:n.4368-460_4368-456dup
NM_001142767.2:c.4248-460_4248-456dup	NP_001136239.1:n.4248-460_4248-456dup
NM_001354404.2:c.4302-460_4302-456dup	NP_001341333.1:n.4302-460_4302-456dup
NM_001384140.1:c.4367+3575_4367+3579dup MANE Select	NP_001371069.1:n.4367+3575_4367+3579dup