Canonical Allele Identifier: CA2609212720

Gene: PCDH15

Linked Data

• gnomAD v4: 10-53823361-TGAAAGAAAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53823365_53823373del , CM000672.2:g.53823365_53823373del	GRCh38
NC_000010.10:g.55583125_55583133del , CM000672.1:g.55583125_55583133del	GRCh37
NC_000010.9:g.55253131_55253139del	NCBI36
NG_009191.2:g.982922_982930del
NG_009191.3:g.1810813_1810821del

Transcript Alleles

HGVS	Amino-acid change
ENST00000613657.6:c.4409+1766_4409+1774del	ENSP00000482794.1:n.4409+1766_4409+1774de...
ENST00000320301.11:c.4368-12_4368-4del MANE Plus Clinical	ENSP00000322604.6:n.4368-12_4368-4del
ENST00000395445.6:c.4388+4023_4388+4031del	ENSP00000378832.2:n.4388+4023_4388+4031de...
ENST00000613657.5:c.4409+1766_4409+1774del	ENSP00000482794.1:n.4409+1766_4409+1774de...
ENST00000642496.1:c.3227-3140_3227-3132del
ENST00000644397.2:c.4368-3140_4368-3132del MANE Select	ENSP00000495195.1:n.4368-3140_4368-3132de...
ENST00000320301.10:c.4368-12_4368-4del	ENSP00000322604.6:n.4368-12_4368-4del
ENST00000361849.7:c.4374-12_4374-4del	ENSP00000354950.3:n.4374-12_4374-4del
ENST00000373956.7:c.*2323-12_*2323-4del	ENSP00000363067.4:n.*2323-12_*2323-4del
ENST00000373957.7:c.4389-12_4389-4del	ENSP00000363068.4:n.4389-12_4389-4del
ENST00000373965.6:c.4373+1766_4373+1774del	ENSP00000363076.3:n.4373+1766_4373+1774de...
ENST00000395430.5:c.4359-12_4359-4del	ENSP00000378818.1:n.4359-12_4359-4del
ENST00000395432.6:c.4248-12_4248-4del	ENSP00000378820.2:n.4248-12_4248-4del
ENST00000395433.5:c.4299-12_4299-4del	ENSP00000378821.1:n.4299-12_4299-4del
ENST00000395438.5:c.4371+4022_4371+4030del	ENSP00000378826.2:n.4371+4022_4371+4030de...
ENST00000395440.5:c.1306-13824_1306-13816del	ENSP00000378827.1:n.1306-13824_1306-13816...
ENST00000395442.5:c.1099-13824_1099-13816del	ENSP00000378829.1:n.1099-13824_1099-13816...
ENST00000395445.5:c.4388+4023_4388+4031del	ENSP00000378832.2:n.4388+4023_4388+4031de...
ENST00000395446.5:c.2092-13824_2092-13816del	ENSP00000378833.1:n.2092-13824_2092-13816...
ENST00000409834.5:c.3206+1766_3206+1774del	ENSP00000386693.1:n.3206+1766_3206+1774de...
ENST00000414367.5:c.*447+4023_*447+4031del	ENSP00000412531.1:n.*447+4023_*447+4031de...
ENST00000414778.5:c.4370+4023_4370+4031del	ENSP00000410304.2:n.4370+4023_4370+4031de...
ENST00000437009.5:c.4161-12_4161-4del	ENSP00000412628.2:n.4161-12_4161-4del
ENST00000448885.5:c.*2329-12_*2329-4del	ENSP00000412320.1:n.*2329-12_*2329-4del
ENST00000463095.2:n.1387-12_1387-4del
ENST00000495484.5:c.462-5357_462-5349del	ENSP00000480780.1:n.462-5357_462-5349del
ENST00000612394.4:c.4406+4023_4406+4031del	ENSP00000482921.1:n.4406+4023_4406+4031de...
ENST00000613657.4:c.4409+1766_4409+1774del	ENSP00000482794.1:n.4409+1766_4409+1774de...
ENST00000614895.4:c.4385+4023_4385+4031del	ENSP00000478512.1:n.4385+4023_4385+4031de...
ENST00000616114.4:c.4367+4023_4367+4031del	ENSP00000483745.1:n.4367+4023_4367+4031de...
ENST00000617051.4:c.4386-3_4391del
ENST00000617271.4:c.4373+1766_4373+1774del	ENSP00000478076.1:n.4373+1766_4373+1774de...
ENST00000618301.4:c.593+4023_593+4031del	ENSP00000482780.1:n.593+4023_593+4031del
ENST00000621708.4:c.4388+1766_4388+1774del	ENSP00000484454.1:n.4388+1766_4388+1774de...
ENST00000622048.4:c.4158-3_4163del
NM_001142763.1:c.4389-12_4389-4del	NP_001136235.1:n.4389-12_4389-4del
NM_001142764.1:c.4374-12_4374-4del	NP_001136236.1:n.4374-12_4374-4del
NM_001142765.1:c.4161-12_4161-4del	NP_001136237.1:n.4161-12_4161-4del
NM_001142766.1:c.4359-12_4359-4del	NP_001136238.1:n.4359-12_4359-4del
NM_001142767.1:c.4248-12_4248-4del	NP_001136239.1:n.4248-12_4248-4del
NM_001142768.1:c.4308-12_4308-4del	NP_001136240.1:n.4308-12_4308-4del
NM_001142769.1:c.4409+1766_4409+1774del	NP_001136241.1:n.4409+1766_4409+1774del
NM_001142770.1:c.4373+1766_4373+1774del	NP_001136242.1:n.4373+1766_4373+1774del
NM_001142771.1:c.4388+1766_4388+1774del	NP_001136243.1:n.4388+1766_4388+1774del
NM_001142772.1:c.4373+1766_4373+1774del	NP_001136244.1:n.4373+1766_4373+1774del
NM_001142773.1:c.4299-12_4299-4del	NP_001136245.1:n.4299-12_4299-4del
NM_033056.3:c.4368-12_4368-4del	NP_149045.3:n.4368-12_4368-4del
NM_001142769.2:c.4409+1766_4409+1774del	NP_001136241.1:n.4409+1766_4409+1774del
NM_001142770.2:c.4373+1766_4373+1774del	NP_001136242.1:n.4373+1766_4373+1774del
NM_001354404.1:c.4302-12_4302-4del	NP_001341333.1:n.4302-12_4302-4del
NM_001354411.1:c.4388+4023_4388+4031del	NP_001341340.1:n.4388+4023_4388+4031del
NM_001354420.1:c.4367+4023_4367+4031del	NP_001341349.1:n.4367+4023_4367+4031del
NM_001354429.1:c.4367+4023_4367+4031del	NP_001341358.1:n.4367+4023_4367+4031del
XM_017016573.2:c.4388+1766_4388+1774del	XP_016872062.1:n.4388+1766_4388+1774del
XR_001747192.2:n.5381-12_5381-4del
XR_001747193.2:n.5372-12_5372-4del
NM_001142763.2:c.4389-12_4389-4del	NP_001136235.1:n.4389-12_4389-4del
NM_001142764.2:c.4374-12_4374-4del	NP_001136236.1:n.4374-12_4374-4del
NM_001142765.2:c.4161-12_4161-4del	NP_001136237.1:n.4161-12_4161-4del
NM_001142766.2:c.4359-12_4359-4del	NP_001136238.1:n.4359-12_4359-4del
NM_001142768.2:c.4308-12_4308-4del	NP_001136240.1:n.4308-12_4308-4del
NM_001142769.3:c.4409+1766_4409+1774del	NP_001136241.1:n.4409+1766_4409+1774del
NM_001142770.3:c.4373+1766_4373+1774del	NP_001136242.1:n.4373+1766_4373+1774del
NM_001142771.2:c.4388+1766_4388+1774del	NP_001136243.1:n.4388+1766_4388+1774del
NM_001142772.2:c.4373+1766_4373+1774del	NP_001136244.1:n.4373+1766_4373+1774del
NM_001142773.2:c.4299-12_4299-4del	NP_001136245.1:n.4299-12_4299-4del
NM_001354411.2:c.4388+4023_4388+4031del	NP_001341340.1:n.4388+4023_4388+4031del
NM_001354420.2:c.4367+4023_4367+4031del	NP_001341349.1:n.4367+4023_4367+4031del
NM_001354429.2:c.4367+4023_4367+4031del	NP_001341358.1:n.4367+4023_4367+4031del
NM_033056.4:c.4368-12_4368-4del MANE Plus Clinical	NP_149045.3:n.4368-12_4368-4del
NM_001142767.2:c.4248-12_4248-4del	NP_001136239.1:n.4248-12_4248-4del
NM_001354404.2:c.4302-12_4302-4del	NP_001341333.1:n.4302-12_4302-4del
NM_001384140.1:c.4368-3140_4368-3132del MANE Select	NP_001371069.1:n.4368-3140_4368-3132del