Canonical Allele Identifier: CA2609212767
Gene: PCDH15 HGNC NCBI

Linked Data

gnomAD v4: 10-53823448-TAAATACTTAA-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53823452_53823461del , CM000672.2:g.53823452_53823461del GRCh38
NC_000010.10:g.55583212_55583221del , CM000672.1:g.55583212_55583221del GRCh37
NC_000010.9:g.55253218_55253227del NCBI36
NG_009191.2:g.982834_982843del
NG_009191.3:g.1810725_1810734del

Transcript Alleles

HGVS Amino-acid Change
ENST00000613657.6:c.4409+1678_4409+1687del ENSP00000482794.1:n.4409+1678_4409+1687del
ENST00000320301.11:c.4368-100_4368-91del MANE Plus Clinical ENSP00000322604.6:n.4368-100_4368-91del
ENST00000395445.6:c.4388+3935_4388+3944del ENSP00000378832.2:n.4388+3935_4388+3944del
ENST00000613657.5:c.4409+1678_4409+1687del ENSP00000482794.1:n.4409+1678_4409+1687del
ENST00000642496.1:c.3227-3228_3227-3219del
ENST00000644397.2:c.4368-3228_4368-3219del MANE Select ENSP00000495195.1:n.4368-3228_4368-3219del
ENST00000320301.10:c.4368-100_4368-91del ENSP00000322604.6:n.4368-100_4368-91del
ENST00000361849.7:c.4374-100_4374-91del ENSP00000354950.3:n.4374-100_4374-91del
ENST00000373956.7:c.*2323-100_*2323-91del ENSP00000363067.4:n.*2323-100_*2323-91del
ENST00000373957.7:c.4389-100_4389-91del ENSP00000363068.4:n.4389-100_4389-91del
ENST00000373965.6:c.4373+1678_4373+1687del ENSP00000363076.3:n.4373+1678_4373+1687del
ENST00000395430.5:c.4359-100_4359-91del ENSP00000378818.1:n.4359-100_4359-91del
ENST00000395432.6:c.4248-100_4248-91del ENSP00000378820.2:n.4248-100_4248-91del
ENST00000395433.5:c.4299-100_4299-91del ENSP00000378821.1:n.4299-100_4299-91del
ENST00000395438.5:c.4371+3934_4371+3943del ENSP00000378826.2:n.4371+3934_4371+3943del
ENST00000395440.5:c.1306-13912_1306-13903del ENSP00000378827.1:n.1306-13912_1306-13903del
ENST00000395442.5:c.1099-13912_1099-13903del ENSP00000378829.1:n.1099-13912_1099-13903del
ENST00000395445.5:c.4388+3935_4388+3944del ENSP00000378832.2:n.4388+3935_4388+3944del
ENST00000395446.5:c.2092-13912_2092-13903del ENSP00000378833.1:n.2092-13912_2092-13903del
ENST00000409834.5:c.3206+1678_3206+1687del ENSP00000386693.1:n.3206+1678_3206+1687del
ENST00000414367.5:c.*447+3935_*447+3944del ENSP00000412531.1:n.*447+3935_*447+3944del
ENST00000414778.5:c.4370+3935_4370+3944del ENSP00000410304.2:n.4370+3935_4370+3944del
ENST00000437009.5:c.4161-100_4161-91del ENSP00000412628.2:n.4161-100_4161-91del
ENST00000448885.5:c.*2329-100_*2329-91del ENSP00000412320.1:n.*2329-100_*2329-91del
ENST00000463095.2:n.1387-100_1387-91del
ENST00000495484.5:c.462-5445_462-5436del ENSP00000480780.1:n.462-5445_462-5436del
ENST00000612394.4:c.4406+3935_4406+3944del ENSP00000482921.1:n.4406+3935_4406+3944del
ENST00000613657.4:c.4409+1678_4409+1687del ENSP00000482794.1:n.4409+1678_4409+1687del
ENST00000614895.4:c.4385+3935_4385+3944del ENSP00000478512.1:n.4385+3935_4385+3944del
ENST00000616114.4:c.4367+3935_4367+3944del ENSP00000483745.1:n.4367+3935_4367+3944del
ENST00000617051.4:c.4386-91_4386-82del ENSP00000484703.1:n.4386-91_4386-82del
ENST00000617271.4:c.4373+1678_4373+1687del ENSP00000478076.1:n.4373+1678_4373+1687del
ENST00000618301.4:c.593+3935_593+3944del ENSP00000482780.1:n.593+3935_593+3944del
ENST00000621708.4:c.4388+1678_4388+1687del ENSP00000484454.1:n.4388+1678_4388+1687del
ENST00000622048.4:c.4158-91_4158-82del ENSP00000482329.1:n.4158-91_4158-82del
NM_001142763.1:c.4389-100_4389-91del NP_001136235.1:n.4389-100_4389-91del
NM_001142764.1:c.4374-100_4374-91del NP_001136236.1:n.4374-100_4374-91del
NM_001142765.1:c.4161-100_4161-91del NP_001136237.1:n.4161-100_4161-91del
NM_001142766.1:c.4359-100_4359-91del NP_001136238.1:n.4359-100_4359-91del
NM_001142767.1:c.4248-100_4248-91del NP_001136239.1:n.4248-100_4248-91del
NM_001142768.1:c.4308-100_4308-91del NP_001136240.1:n.4308-100_4308-91del
NM_001142769.1:c.4409+1678_4409+1687del NP_001136241.1:n.4409+1678_4409+1687del
NM_001142770.1:c.4373+1678_4373+1687del NP_001136242.1:n.4373+1678_4373+1687del
NM_001142771.1:c.4388+1678_4388+1687del NP_001136243.1:n.4388+1678_4388+1687del
NM_001142772.1:c.4373+1678_4373+1687del NP_001136244.1:n.4373+1678_4373+1687del
NM_001142773.1:c.4299-100_4299-91del NP_001136245.1:n.4299-100_4299-91del
NM_033056.3:c.4368-100_4368-91del NP_149045.3:n.4368-100_4368-91del
NM_001142769.2:c.4409+1678_4409+1687del NP_001136241.1:n.4409+1678_4409+1687del
NM_001142770.2:c.4373+1678_4373+1687del NP_001136242.1:n.4373+1678_4373+1687del
NM_001354404.1:c.4302-100_4302-91del NP_001341333.1:n.4302-100_4302-91del
NM_001354411.1:c.4388+3935_4388+3944del NP_001341340.1:n.4388+3935_4388+3944del
NM_001354420.1:c.4367+3935_4367+3944del NP_001341349.1:n.4367+3935_4367+3944del
NM_001354429.1:c.4367+3935_4367+3944del NP_001341358.1:n.4367+3935_4367+3944del
XM_017016573.2:c.4388+1678_4388+1687del XP_016872062.1:n.4388+1678_4388+1687del
XR_001747192.2:n.5381-100_5381-91del
XR_001747193.2:n.5372-100_5372-91del
NM_001142763.2:c.4389-100_4389-91del NP_001136235.1:n.4389-100_4389-91del
NM_001142764.2:c.4374-100_4374-91del NP_001136236.1:n.4374-100_4374-91del
NM_001142765.2:c.4161-100_4161-91del NP_001136237.1:n.4161-100_4161-91del
NM_001142766.2:c.4359-100_4359-91del NP_001136238.1:n.4359-100_4359-91del
NM_001142768.2:c.4308-100_4308-91del NP_001136240.1:n.4308-100_4308-91del
NM_001142769.3:c.4409+1678_4409+1687del NP_001136241.1:n.4409+1678_4409+1687del
NM_001142770.3:c.4373+1678_4373+1687del NP_001136242.1:n.4373+1678_4373+1687del
NM_001142771.2:c.4388+1678_4388+1687del NP_001136243.1:n.4388+1678_4388+1687del
NM_001142772.2:c.4373+1678_4373+1687del NP_001136244.1:n.4373+1678_4373+1687del
NM_001142773.2:c.4299-100_4299-91del NP_001136245.1:n.4299-100_4299-91del
NM_001354411.2:c.4388+3935_4388+3944del NP_001341340.1:n.4388+3935_4388+3944del
NM_001354420.2:c.4367+3935_4367+3944del NP_001341349.1:n.4367+3935_4367+3944del
NM_001354429.2:c.4367+3935_4367+3944del NP_001341358.1:n.4367+3935_4367+3944del
NM_033056.4:c.4368-100_4368-91del MANE Plus Clinical NP_149045.3:n.4368-100_4368-91del
NM_001142767.2:c.4248-100_4248-91del NP_001136239.1:n.4248-100_4248-91del
NM_001354404.2:c.4302-100_4302-91del NP_001341333.1:n.4302-100_4302-91del
NM_001384140.1:c.4368-3228_4368-3219del MANE Select NP_001371069.1:n.4368-3228_4368-3219del
Search 100 bp 5'
Search 100 bp 3'