Canonical Allele Identifier: CA2609212979

Gene: PCDH15

Linked Data

• gnomAD v4: 10-53823794-G-GTACT

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53823796_53823799dup , CM000672.2:g.53823796_53823799dup	GRCh38
NC_000010.10:g.55583556_55583559dup , CM000672.1:g.55583556_55583559dup	GRCh37
NC_000010.9:g.55253562_55253565dup	NCBI36
NG_009191.2:g.982494_982497dup
NG_009191.3:g.1810385_1810388dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613657.6:c.4409+1338_4409+1341dup	ENSP00000482794.1:n.4409+1338_4409+1341dup
ENST00000320301.11:c.4368-440_4368-437dup MANE Plus Clinical	ENSP00000322604.6:n.4368-440_4368-437dup
ENST00000395445.6:c.4388+3595_4388+3598dup	ENSP00000378832.2:n.4388+3595_4388+3598dup
ENST00000613657.5:c.4409+1338_4409+1341dup	ENSP00000482794.1:n.4409+1338_4409+1341dup
ENST00000642496.1:c.3227-3568_3227-3565dup
ENST00000644397.2:c.4368-3568_4368-3565dup MANE Select	ENSP00000495195.1:n.4368-3568_4368-3565dup
ENST00000320301.10:c.4368-440_4368-437dup	ENSP00000322604.6:n.4368-440_4368-437dup
ENST00000361849.7:c.4374-440_4374-437dup	ENSP00000354950.3:n.4374-440_4374-437dup
ENST00000373956.7:c.*2323-440_*2323-437dup	ENSP00000363067.4:n.*2323-440_*2323-437dup
ENST00000373957.7:c.4389-440_4389-437dup	ENSP00000363068.4:n.4389-440_4389-437dup
ENST00000373965.6:c.4373+1338_4373+1341dup	ENSP00000363076.3:n.4373+1338_4373+1341dup
ENST00000395430.5:c.4359-440_4359-437dup	ENSP00000378818.1:n.4359-440_4359-437dup
ENST00000395432.6:c.4248-440_4248-437dup	ENSP00000378820.2:n.4248-440_4248-437dup
ENST00000395433.5:c.4299-440_4299-437dup	ENSP00000378821.1:n.4299-440_4299-437dup
ENST00000395438.5:c.4371+3594_4371+3597dup	ENSP00000378826.2:n.4371+3594_4371+3597dup
ENST00000395440.5:c.1306-14252_1306-14249dup	ENSP00000378827.1:n.1306-14252_1306-14249dup
ENST00000395442.5:c.1099-14252_1099-14249dup	ENSP00000378829.1:n.1099-14252_1099-14249dup
ENST00000395445.5:c.4388+3595_4388+3598dup	ENSP00000378832.2:n.4388+3595_4388+3598dup
ENST00000395446.5:c.2092-14252_2092-14249dup	ENSP00000378833.1:n.2092-14252_2092-14249dup
ENST00000409834.5:c.3206+1338_3206+1341dup	ENSP00000386693.1:n.3206+1338_3206+1341dup
ENST00000414367.5:c.*447+3595_*447+3598dup	ENSP00000412531.1:n.*447+3595_*447+3598dup
ENST00000414778.5:c.4370+3595_4370+3598dup	ENSP00000410304.2:n.4370+3595_4370+3598dup
ENST00000437009.5:c.4161-440_4161-437dup	ENSP00000412628.2:n.4161-440_4161-437dup
ENST00000448885.5:c.*2329-440_*2329-437dup	ENSP00000412320.1:n.*2329-440_*2329-437dup
ENST00000463095.2:n.1387-440_1387-437dup
ENST00000495484.5:c.462-5785_462-5782dup	ENSP00000480780.1:n.462-5785_462-5782dup
ENST00000612394.4:c.4406+3595_4406+3598dup	ENSP00000482921.1:n.4406+3595_4406+3598dup
ENST00000613657.4:c.4409+1338_4409+1341dup	ENSP00000482794.1:n.4409+1338_4409+1341dup
ENST00000614895.4:c.4385+3595_4385+3598dup	ENSP00000478512.1:n.4385+3595_4385+3598dup
ENST00000616114.4:c.4367+3595_4367+3598dup	ENSP00000483745.1:n.4367+3595_4367+3598dup
ENST00000617051.4:c.4386-431_4386-428dup	ENSP00000484703.1:n.4386-431_4386-428dup
ENST00000617271.4:c.4373+1338_4373+1341dup	ENSP00000478076.1:n.4373+1338_4373+1341dup
ENST00000618301.4:c.593+3595_593+3598dup	ENSP00000482780.1:n.593+3595_593+3598dup
ENST00000621708.4:c.4388+1338_4388+1341dup	ENSP00000484454.1:n.4388+1338_4388+1341dup
ENST00000622048.4:c.4158-431_4158-428dup	ENSP00000482329.1:n.4158-431_4158-428dup
NM_001142763.1:c.4389-440_4389-437dup	NP_001136235.1:n.4389-440_4389-437dup
NM_001142764.1:c.4374-440_4374-437dup	NP_001136236.1:n.4374-440_4374-437dup
NM_001142765.1:c.4161-440_4161-437dup	NP_001136237.1:n.4161-440_4161-437dup
NM_001142766.1:c.4359-440_4359-437dup	NP_001136238.1:n.4359-440_4359-437dup
NM_001142767.1:c.4248-440_4248-437dup	NP_001136239.1:n.4248-440_4248-437dup
NM_001142768.1:c.4308-440_4308-437dup	NP_001136240.1:n.4308-440_4308-437dup
NM_001142769.1:c.4409+1338_4409+1341dup	NP_001136241.1:n.4409+1338_4409+1341dup
NM_001142770.1:c.4373+1338_4373+1341dup	NP_001136242.1:n.4373+1338_4373+1341dup
NM_001142771.1:c.4388+1338_4388+1341dup	NP_001136243.1:n.4388+1338_4388+1341dup
NM_001142772.1:c.4373+1338_4373+1341dup	NP_001136244.1:n.4373+1338_4373+1341dup
NM_001142773.1:c.4299-440_4299-437dup	NP_001136245.1:n.4299-440_4299-437dup
NM_033056.3:c.4368-440_4368-437dup	NP_149045.3:n.4368-440_4368-437dup
NM_001142769.2:c.4409+1338_4409+1341dup	NP_001136241.1:n.4409+1338_4409+1341dup
NM_001142770.2:c.4373+1338_4373+1341dup	NP_001136242.1:n.4373+1338_4373+1341dup
NM_001354404.1:c.4302-440_4302-437dup	NP_001341333.1:n.4302-440_4302-437dup
NM_001354411.1:c.4388+3595_4388+3598dup	NP_001341340.1:n.4388+3595_4388+3598dup
NM_001354420.1:c.4367+3595_4367+3598dup	NP_001341349.1:n.4367+3595_4367+3598dup
NM_001354429.1:c.4367+3595_4367+3598dup	NP_001341358.1:n.4367+3595_4367+3598dup
XM_017016573.2:c.4388+1338_4388+1341dup	XP_016872062.1:n.4388+1338_4388+1341dup
XR_001747192.2:n.5381-440_5381-437dup
XR_001747193.2:n.5372-440_5372-437dup
NM_001142763.2:c.4389-440_4389-437dup	NP_001136235.1:n.4389-440_4389-437dup
NM_001142764.2:c.4374-440_4374-437dup	NP_001136236.1:n.4374-440_4374-437dup
NM_001142765.2:c.4161-440_4161-437dup	NP_001136237.1:n.4161-440_4161-437dup
NM_001142766.2:c.4359-440_4359-437dup	NP_001136238.1:n.4359-440_4359-437dup
NM_001142768.2:c.4308-440_4308-437dup	NP_001136240.1:n.4308-440_4308-437dup
NM_001142769.3:c.4409+1338_4409+1341dup	NP_001136241.1:n.4409+1338_4409+1341dup
NM_001142770.3:c.4373+1338_4373+1341dup	NP_001136242.1:n.4373+1338_4373+1341dup
NM_001142771.2:c.4388+1338_4388+1341dup	NP_001136243.1:n.4388+1338_4388+1341dup
NM_001142772.2:c.4373+1338_4373+1341dup	NP_001136244.1:n.4373+1338_4373+1341dup
NM_001142773.2:c.4299-440_4299-437dup	NP_001136245.1:n.4299-440_4299-437dup
NM_001354411.2:c.4388+3595_4388+3598dup	NP_001341340.1:n.4388+3595_4388+3598dup
NM_001354420.2:c.4367+3595_4367+3598dup	NP_001341349.1:n.4367+3595_4367+3598dup
NM_001354429.2:c.4367+3595_4367+3598dup	NP_001341358.1:n.4367+3595_4367+3598dup
NM_033056.4:c.4368-440_4368-437dup MANE Plus Clinical	NP_149045.3:n.4368-440_4368-437dup
NM_001142767.2:c.4248-440_4248-437dup	NP_001136239.1:n.4248-440_4248-437dup
NM_001354404.2:c.4302-440_4302-437dup	NP_001341333.1:n.4302-440_4302-437dup
NM_001384140.1:c.4368-3568_4368-3565dup MANE Select	NP_001371069.1:n.4368-3568_4368-3565dup