Canonical Allele Identifier: CA928498294

Gene: PCDH15

Linked Data

• dbSNP Id: rs2076457516
• gnomAD v3: 10-53823533-G-GGCAGAAAA
• gnomAD v4: 10-53823533-G-GGCAGAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53823534_53823541dup , CM000672.2:g.53823534_53823541dup	GRCh38
NC_000010.10:g.55583294_55583301dup , CM000672.1:g.55583294_55583301dup	GRCh37
NC_000010.9:g.55253300_55253307dup	NCBI36
NG_009191.2:g.982751_982758dup
NG_009191.3:g.1810642_1810649dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613657.6:c.4409+1595_4409+1602dup	ENSP00000482794.1:n.4409+1595_4409+1602dup
ENST00000320301.11:c.4368-183_4368-176dup MANE Plus Clinical	ENSP00000322604.6:n.4368-183_4368-176dup
ENST00000395445.6:c.4388+3852_4388+3859dup	ENSP00000378832.2:n.4388+3852_4388+3859dup
ENST00000613657.5:c.4409+1595_4409+1602dup	ENSP00000482794.1:n.4409+1595_4409+1602dup
ENST00000642496.1:c.3227-3311_3227-3304dup
ENST00000644397.2:c.4368-3311_4368-3304dup MANE Select	ENSP00000495195.1:n.4368-3311_4368-3304dup
ENST00000320301.10:c.4368-183_4368-176dup	ENSP00000322604.6:n.4368-183_4368-176dup
ENST00000361849.7:c.4374-183_4374-176dup	ENSP00000354950.3:n.4374-183_4374-176dup
ENST00000373956.7:c.*2323-183_*2323-176dup	ENSP00000363067.4:n.*2323-183_*2323-176dup
ENST00000373957.7:c.4389-183_4389-176dup	ENSP00000363068.4:n.4389-183_4389-176dup
ENST00000373965.6:c.4373+1595_4373+1602dup	ENSP00000363076.3:n.4373+1595_4373+1602dup
ENST00000395430.5:c.4359-183_4359-176dup	ENSP00000378818.1:n.4359-183_4359-176dup
ENST00000395432.6:c.4248-183_4248-176dup	ENSP00000378820.2:n.4248-183_4248-176dup
ENST00000395433.5:c.4299-183_4299-176dup	ENSP00000378821.1:n.4299-183_4299-176dup
ENST00000395438.5:c.4371+3851_4371+3858dup	ENSP00000378826.2:n.4371+3851_4371+3858dup
ENST00000395440.5:c.1306-13995_1306-13988dup	ENSP00000378827.1:n.1306-13995_1306-13988dup
ENST00000395442.5:c.1099-13995_1099-13988dup	ENSP00000378829.1:n.1099-13995_1099-13988dup
ENST00000395445.5:c.4388+3852_4388+3859dup	ENSP00000378832.2:n.4388+3852_4388+3859dup
ENST00000395446.5:c.2092-13995_2092-13988dup	ENSP00000378833.1:n.2092-13995_2092-13988dup
ENST00000409834.5:c.3206+1595_3206+1602dup	ENSP00000386693.1:n.3206+1595_3206+1602dup
ENST00000414367.5:c.*447+3852_*447+3859dup	ENSP00000412531.1:n.*447+3852_*447+3859dup
ENST00000414778.5:c.4370+3852_4370+3859dup	ENSP00000410304.2:n.4370+3852_4370+3859dup
ENST00000437009.5:c.4161-183_4161-176dup	ENSP00000412628.2:n.4161-183_4161-176dup
ENST00000448885.5:c.*2329-183_*2329-176dup	ENSP00000412320.1:n.*2329-183_*2329-176dup
ENST00000463095.2:n.1387-183_1387-176dup
ENST00000495484.5:c.462-5528_462-5521dup	ENSP00000480780.1:n.462-5528_462-5521dup
ENST00000612394.4:c.4406+3852_4406+3859dup	ENSP00000482921.1:n.4406+3852_4406+3859dup
ENST00000613657.4:c.4409+1595_4409+1602dup	ENSP00000482794.1:n.4409+1595_4409+1602dup
ENST00000614895.4:c.4385+3852_4385+3859dup	ENSP00000478512.1:n.4385+3852_4385+3859dup
ENST00000616114.4:c.4367+3852_4367+3859dup	ENSP00000483745.1:n.4367+3852_4367+3859dup
ENST00000617051.4:c.4386-174_4386-167dup	ENSP00000484703.1:n.4386-174_4386-167dup
ENST00000617271.4:c.4373+1595_4373+1602dup	ENSP00000478076.1:n.4373+1595_4373+1602dup
ENST00000618301.4:c.593+3852_593+3859dup	ENSP00000482780.1:n.593+3852_593+3859dup
ENST00000621708.4:c.4388+1595_4388+1602dup	ENSP00000484454.1:n.4388+1595_4388+1602dup
ENST00000622048.4:c.4158-174_4158-167dup	ENSP00000482329.1:n.4158-174_4158-167dup
NM_001142763.1:c.4389-183_4389-176dup	NP_001136235.1:n.4389-183_4389-176dup
NM_001142764.1:c.4374-183_4374-176dup	NP_001136236.1:n.4374-183_4374-176dup
NM_001142765.1:c.4161-183_4161-176dup	NP_001136237.1:n.4161-183_4161-176dup
NM_001142766.1:c.4359-183_4359-176dup	NP_001136238.1:n.4359-183_4359-176dup
NM_001142767.1:c.4248-183_4248-176dup	NP_001136239.1:n.4248-183_4248-176dup
NM_001142768.1:c.4308-183_4308-176dup	NP_001136240.1:n.4308-183_4308-176dup
NM_001142769.1:c.4409+1595_4409+1602dup	NP_001136241.1:n.4409+1595_4409+1602dup
NM_001142770.1:c.4373+1595_4373+1602dup	NP_001136242.1:n.4373+1595_4373+1602dup
NM_001142771.1:c.4388+1595_4388+1602dup	NP_001136243.1:n.4388+1595_4388+1602dup
NM_001142772.1:c.4373+1595_4373+1602dup	NP_001136244.1:n.4373+1595_4373+1602dup
NM_001142773.1:c.4299-183_4299-176dup	NP_001136245.1:n.4299-183_4299-176dup
NM_033056.3:c.4368-183_4368-176dup	NP_149045.3:n.4368-183_4368-176dup
NM_001142769.2:c.4409+1595_4409+1602dup	NP_001136241.1:n.4409+1595_4409+1602dup
NM_001142770.2:c.4373+1595_4373+1602dup	NP_001136242.1:n.4373+1595_4373+1602dup
NM_001354404.1:c.4302-183_4302-176dup	NP_001341333.1:n.4302-183_4302-176dup
NM_001354411.1:c.4388+3852_4388+3859dup	NP_001341340.1:n.4388+3852_4388+3859dup
NM_001354420.1:c.4367+3852_4367+3859dup	NP_001341349.1:n.4367+3852_4367+3859dup
NM_001354429.1:c.4367+3852_4367+3859dup	NP_001341358.1:n.4367+3852_4367+3859dup
XM_017016573.2:c.4388+1595_4388+1602dup	XP_016872062.1:n.4388+1595_4388+1602dup
XR_001747192.2:n.5381-183_5381-176dup
XR_001747193.2:n.5372-183_5372-176dup
NM_001142763.2:c.4389-183_4389-176dup	NP_001136235.1:n.4389-183_4389-176dup
NM_001142764.2:c.4374-183_4374-176dup	NP_001136236.1:n.4374-183_4374-176dup
NM_001142765.2:c.4161-183_4161-176dup	NP_001136237.1:n.4161-183_4161-176dup
NM_001142766.2:c.4359-183_4359-176dup	NP_001136238.1:n.4359-183_4359-176dup
NM_001142768.2:c.4308-183_4308-176dup	NP_001136240.1:n.4308-183_4308-176dup
NM_001142769.3:c.4409+1595_4409+1602dup	NP_001136241.1:n.4409+1595_4409+1602dup
NM_001142770.3:c.4373+1595_4373+1602dup	NP_001136242.1:n.4373+1595_4373+1602dup
NM_001142771.2:c.4388+1595_4388+1602dup	NP_001136243.1:n.4388+1595_4388+1602dup
NM_001142772.2:c.4373+1595_4373+1602dup	NP_001136244.1:n.4373+1595_4373+1602dup
NM_001142773.2:c.4299-183_4299-176dup	NP_001136245.1:n.4299-183_4299-176dup
NM_001354411.2:c.4388+3852_4388+3859dup	NP_001341340.1:n.4388+3852_4388+3859dup
NM_001354420.2:c.4367+3852_4367+3859dup	NP_001341349.1:n.4367+3852_4367+3859dup
NM_001354429.2:c.4367+3852_4367+3859dup	NP_001341358.1:n.4367+3852_4367+3859dup
NM_033056.4:c.4368-183_4368-176dup MANE Plus Clinical	NP_149045.3:n.4368-183_4368-176dup
NM_001142767.2:c.4248-183_4248-176dup	NP_001136239.1:n.4248-183_4248-176dup
NM_001354404.2:c.4302-183_4302-176dup	NP_001341333.1:n.4302-183_4302-176dup
NM_001384140.1:c.4368-3311_4368-3304dup MANE Select	NP_001371069.1:n.4368-3311_4368-3304dup