Canonical Allele Identifier: CA5505324

Gene: PCDH15

Linked Data

• dbSNP Id: rs768808974
• ExAC: 10:55583528 G / GAAGA
• gnomAD v2: 10-55583528-G-GAAGA
• gnomAD v4: 10-53823768-G-GAAGA
• MyVariant Identifiers: chr10:g.55583528_55583529insAAGA (hg19) ; chr10:g.53823768_53823769insAAGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53823769_53823772dup , CM000672.2:g.53823769_53823772dup	GRCh38
NC_000010.10:g.55583529_55583532dup , CM000672.1:g.55583529_55583532dup	GRCh37
NC_000010.9:g.55253535_55253538dup	NCBI36
NG_009191.2:g.982520_982523dup
NG_009191.3:g.1810411_1810414dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613657.6:c.4409+1364_4409+1367dup	ENSP00000482794.1:n.4409+1364_4409+1367dup
ENST00000320301.11:c.4368-414_4368-411dup MANE Plus Clinical	ENSP00000322604.6:n.4368-414_4368-411dup
ENST00000395445.6:c.4388+3621_4388+3624dup	ENSP00000378832.2:n.4388+3621_4388+3624dup
ENST00000613657.5:c.4409+1364_4409+1367dup	ENSP00000482794.1:n.4409+1364_4409+1367dup
ENST00000642496.1:c.3227-3542_3227-3539dup
ENST00000644397.2:c.4368-3542_4368-3539dup MANE Select	ENSP00000495195.1:n.4368-3542_4368-3539dup
ENST00000320301.10:c.4368-414_4368-411dup	ENSP00000322604.6:n.4368-414_4368-411dup
ENST00000361849.7:c.4374-414_4374-411dup	ENSP00000354950.3:n.4374-414_4374-411dup
ENST00000373956.7:c.*2323-414_*2323-411dup	ENSP00000363067.4:n.*2323-414_*2323-411dup
ENST00000373957.7:c.4389-414_4389-411dup	ENSP00000363068.4:n.4389-414_4389-411dup
ENST00000373965.6:c.4373+1364_4373+1367dup	ENSP00000363076.3:n.4373+1364_4373+1367dup
ENST00000395430.5:c.4359-414_4359-411dup	ENSP00000378818.1:n.4359-414_4359-411dup
ENST00000395432.6:c.4248-414_4248-411dup	ENSP00000378820.2:n.4248-414_4248-411dup
ENST00000395433.5:c.4299-414_4299-411dup	ENSP00000378821.1:n.4299-414_4299-411dup
ENST00000395438.5:c.4371+3620_4371+3623dup	ENSP00000378826.2:n.4371+3620_4371+3623dup
ENST00000395440.5:c.1306-14226_1306-14223dup	ENSP00000378827.1:n.1306-14226_1306-14223dup
ENST00000395442.5:c.1099-14226_1099-14223dup	ENSP00000378829.1:n.1099-14226_1099-14223dup
ENST00000395445.5:c.4388+3621_4388+3624dup	ENSP00000378832.2:n.4388+3621_4388+3624dup
ENST00000395446.5:c.2092-14226_2092-14223dup	ENSP00000378833.1:n.2092-14226_2092-14223dup
ENST00000409834.5:c.3206+1364_3206+1367dup	ENSP00000386693.1:n.3206+1364_3206+1367dup
ENST00000414367.5:c.*447+3621_*447+3624dup	ENSP00000412531.1:n.*447+3621_*447+3624dup
ENST00000414778.5:c.4370+3621_4370+3624dup	ENSP00000410304.2:n.4370+3621_4370+3624dup
ENST00000437009.5:c.4161-414_4161-411dup	ENSP00000412628.2:n.4161-414_4161-411dup
ENST00000448885.5:c.*2329-414_*2329-411dup	ENSP00000412320.1:n.*2329-414_*2329-411dup
ENST00000463095.2:n.1387-414_1387-411dup
ENST00000495484.5:c.462-5759_462-5756dup	ENSP00000480780.1:n.462-5759_462-5756dup
ENST00000612394.4:c.4406+3621_4406+3624dup	ENSP00000482921.1:n.4406+3621_4406+3624dup
ENST00000613657.4:c.4409+1364_4409+1367dup	ENSP00000482794.1:n.4409+1364_4409+1367dup
ENST00000614895.4:c.4385+3621_4385+3624dup	ENSP00000478512.1:n.4385+3621_4385+3624dup
ENST00000616114.4:c.4367+3621_4367+3624dup	ENSP00000483745.1:n.4367+3621_4367+3624dup
ENST00000617051.4:c.4386-405_4386-402dup	ENSP00000484703.1:n.4386-405_4386-402dup
ENST00000617271.4:c.4373+1364_4373+1367dup	ENSP00000478076.1:n.4373+1364_4373+1367dup
ENST00000618301.4:c.593+3621_593+3624dup	ENSP00000482780.1:n.593+3621_593+3624dup
ENST00000621708.4:c.4388+1364_4388+1367dup	ENSP00000484454.1:n.4388+1364_4388+1367dup
ENST00000622048.4:c.4158-405_4158-402dup	ENSP00000482329.1:n.4158-405_4158-402dup
NM_001142763.1:c.4389-414_4389-411dup	NP_001136235.1:n.4389-414_4389-411dup
NM_001142764.1:c.4374-414_4374-411dup	NP_001136236.1:n.4374-414_4374-411dup
NM_001142765.1:c.4161-414_4161-411dup	NP_001136237.1:n.4161-414_4161-411dup
NM_001142766.1:c.4359-414_4359-411dup	NP_001136238.1:n.4359-414_4359-411dup
NM_001142767.1:c.4248-414_4248-411dup	NP_001136239.1:n.4248-414_4248-411dup
NM_001142768.1:c.4308-414_4308-411dup	NP_001136240.1:n.4308-414_4308-411dup
NM_001142769.1:c.4409+1364_4409+1367dup	NP_001136241.1:n.4409+1364_4409+1367dup
NM_001142770.1:c.4373+1364_4373+1367dup	NP_001136242.1:n.4373+1364_4373+1367dup
NM_001142771.1:c.4388+1364_4388+1367dup	NP_001136243.1:n.4388+1364_4388+1367dup
NM_001142772.1:c.4373+1364_4373+1367dup	NP_001136244.1:n.4373+1364_4373+1367dup
NM_001142773.1:c.4299-414_4299-411dup	NP_001136245.1:n.4299-414_4299-411dup
NM_033056.3:c.4368-414_4368-411dup	NP_149045.3:n.4368-414_4368-411dup
NM_001142769.2:c.4409+1364_4409+1367dup	NP_001136241.1:n.4409+1364_4409+1367dup
NM_001142770.2:c.4373+1364_4373+1367dup	NP_001136242.1:n.4373+1364_4373+1367dup
NM_001354404.1:c.4302-414_4302-411dup	NP_001341333.1:n.4302-414_4302-411dup
NM_001354411.1:c.4388+3621_4388+3624dup	NP_001341340.1:n.4388+3621_4388+3624dup
NM_001354420.1:c.4367+3621_4367+3624dup	NP_001341349.1:n.4367+3621_4367+3624dup
NM_001354429.1:c.4367+3621_4367+3624dup	NP_001341358.1:n.4367+3621_4367+3624dup
XM_017016573.2:c.4388+1364_4388+1367dup	XP_016872062.1:n.4388+1364_4388+1367dup
XR_001747192.2:n.5381-414_5381-411dup
XR_001747193.2:n.5372-414_5372-411dup
NM_001142763.2:c.4389-414_4389-411dup	NP_001136235.1:n.4389-414_4389-411dup
NM_001142764.2:c.4374-414_4374-411dup	NP_001136236.1:n.4374-414_4374-411dup
NM_001142765.2:c.4161-414_4161-411dup	NP_001136237.1:n.4161-414_4161-411dup
NM_001142766.2:c.4359-414_4359-411dup	NP_001136238.1:n.4359-414_4359-411dup
NM_001142768.2:c.4308-414_4308-411dup	NP_001136240.1:n.4308-414_4308-411dup
NM_001142769.3:c.4409+1364_4409+1367dup	NP_001136241.1:n.4409+1364_4409+1367dup
NM_001142770.3:c.4373+1364_4373+1367dup	NP_001136242.1:n.4373+1364_4373+1367dup
NM_001142771.2:c.4388+1364_4388+1367dup	NP_001136243.1:n.4388+1364_4388+1367dup
NM_001142772.2:c.4373+1364_4373+1367dup	NP_001136244.1:n.4373+1364_4373+1367dup
NM_001142773.2:c.4299-414_4299-411dup	NP_001136245.1:n.4299-414_4299-411dup
NM_001354411.2:c.4388+3621_4388+3624dup	NP_001341340.1:n.4388+3621_4388+3624dup
NM_001354420.2:c.4367+3621_4367+3624dup	NP_001341349.1:n.4367+3621_4367+3624dup
NM_001354429.2:c.4367+3621_4367+3624dup	NP_001341358.1:n.4367+3621_4367+3624dup
NM_033056.4:c.4368-414_4368-411dup MANE Plus Clinical	NP_149045.3:n.4368-414_4368-411dup
NM_001142767.2:c.4248-414_4248-411dup	NP_001136239.1:n.4248-414_4248-411dup
NM_001354404.2:c.4302-414_4302-411dup	NP_001341333.1:n.4302-414_4302-411dup
NM_001384140.1:c.4368-3542_4368-3539dup MANE Select	NP_001371069.1:n.4368-3542_4368-3539dup