Canonical Allele Identifier: CA2609212955
Gene: PCDH15 HGNC NCBI

Linked Data

gnomAD v4: 10-53823731-C-CTACCAACTTCTTATCTT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53823732_53823733insACCAACTTCTTATCTTT , CM000672.2:g.53823732_53823733insACCAACTTCTTATCTTT GRCh38
NC_000010.10:g.55583492_55583493insACCAACTTCTTATCTTT , CM000672.1:g.55583492_55583493insACCAACTTCTTATCTTT GRCh37
NC_000010.9:g.55253498_55253499insACCAACTTCTTATCTTT NCBI36
NG_009191.2:g.982560_982561insAAGATAAGAAGTTGGTA
NG_009191.3:g.1810451_1810452insAAGATAAGAAGTTGGTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000613657.6:c.4409+1404_4409+1405insAAGATAAGAAGTTGGTA ENSP00000482794.1:n.4409+1404_4409+1405insAAGATAAGAAGTTGGTA
ENST00000320301.11:c.4368-374_4368-373insAAGATAAGAAGTTGGTA MANE Plus Clinical ENSP00000322604.6:n.4368-374_4368-373insAAGATAAGAAGTTGGTA
ENST00000395445.6:c.4388+3661_4388+3662insAAGATAAGAAGTTGGTA ENSP00000378832.2:n.4388+3661_4388+3662insAAGATAAGAAGTTGGTA
ENST00000613657.5:c.4409+1404_4409+1405insAAGATAAGAAGTTGGTA ENSP00000482794.1:n.4409+1404_4409+1405insAAGATAAGAAGTTGGTA
ENST00000642496.1:c.3227-3502_3227-3501insAAGATAAGAAGTTGGTA
ENST00000644397.2:c.4368-3502_4368-3501insAAGATAAGAAGTTGGTA MANE Select ENSP00000495195.1:n.4368-3502_4368-3501insAAGATAAGAAGTTGGTA
ENST00000320301.10:c.4368-374_4368-373insAAGATAAGAAGTTGGTA ENSP00000322604.6:n.4368-374_4368-373insAAGATAAGAAGTTGGTA
ENST00000361849.7:c.4374-374_4374-373insAAGATAAGAAGTTGGTA ENSP00000354950.3:n.4374-374_4374-373insAAGATAAGAAGTTGGTA
ENST00000373956.7:c.*2323-374_*2323-373insAAGATAAGAAGTTGGTA ENSP00000363067.4:n.*2323-374_*2323-373insAAGATAAGAAGTTGGTA
ENST00000373957.7:c.4389-374_4389-373insAAGATAAGAAGTTGGTA ENSP00000363068.4:n.4389-374_4389-373insAAGATAAGAAGTTGGTA
ENST00000373965.6:c.4373+1404_4373+1405insAAGATAAGAAGTTGGTA ENSP00000363076.3:n.4373+1404_4373+1405insAAGATAAGAAGTTGGTA
ENST00000395430.5:c.4359-374_4359-373insAAGATAAGAAGTTGGTA ENSP00000378818.1:n.4359-374_4359-373insAAGATAAGAAGTTGGTA
ENST00000395432.6:c.4248-374_4248-373insAAGATAAGAAGTTGGTA ENSP00000378820.2:n.4248-374_4248-373insAAGATAAGAAGTTGGTA
ENST00000395433.5:c.4299-374_4299-373insAAGATAAGAAGTTGGTA ENSP00000378821.1:n.4299-374_4299-373insAAGATAAGAAGTTGGTA
ENST00000395438.5:c.4371+3660_4371+3661insAAGATAAGAAGTTGGTA ENSP00000378826.2:n.4371+3660_4371+3661insAAGATAAGAAGTTGGTA
ENST00000395440.5:c.1306-14186_1306-14185insAAGATAAGAAGTTGGTA ENSP00000378827.1:n.1306-14186_1306-14185insAAGATAAGAAGTTGGTA...
ENST00000395442.5:c.1099-14186_1099-14185insAAGATAAGAAGTTGGTA ENSP00000378829.1:n.1099-14186_1099-14185insAAGATAAGAAGTTGGTA...
ENST00000395445.5:c.4388+3661_4388+3662insAAGATAAGAAGTTGGTA ENSP00000378832.2:n.4388+3661_4388+3662insAAGATAAGAAGTTGGTA
ENST00000395446.5:c.2092-14186_2092-14185insAAGATAAGAAGTTGGTA ENSP00000378833.1:n.2092-14186_2092-14185insAAGATAAGAAGTTGGTA...
ENST00000409834.5:c.3206+1404_3206+1405insAAGATAAGAAGTTGGTA ENSP00000386693.1:n.3206+1404_3206+1405insAAGATAAGAAGTTGGTA
ENST00000414367.5:c.*447+3661_*447+3662insAAGATAAGAAGTTGGTA ENSP00000412531.1:n.*447+3661_*447+3662insAAGATAAGAAGTTGGTA
ENST00000414778.5:c.4370+3661_4370+3662insAAGATAAGAAGTTGGTA ENSP00000410304.2:n.4370+3661_4370+3662insAAGATAAGAAGTTGGTA
ENST00000437009.5:c.4161-374_4161-373insAAGATAAGAAGTTGGTA ENSP00000412628.2:n.4161-374_4161-373insAAGATAAGAAGTTGGTA
ENST00000448885.5:c.*2329-374_*2329-373insAAGATAAGAAGTTGGTA ENSP00000412320.1:n.*2329-374_*2329-373insAAGATAAGAAGTTGGTA
ENST00000463095.2:n.1387-374_1387-373insAAGATAAGAAGTTGGTA
ENST00000495484.5:c.462-5719_462-5718insAAGATAAGAAGTTGGTA ENSP00000480780.1:n.462-5719_462-5718insAAGATAAGAAGTTGGTA
ENST00000612394.4:c.4406+3661_4406+3662insAAGATAAGAAGTTGGTA ENSP00000482921.1:n.4406+3661_4406+3662insAAGATAAGAAGTTGGTA
ENST00000613657.4:c.4409+1404_4409+1405insAAGATAAGAAGTTGGTA ENSP00000482794.1:n.4409+1404_4409+1405insAAGATAAGAAGTTGGTA
ENST00000614895.4:c.4385+3661_4385+3662insAAGATAAGAAGTTGGTA ENSP00000478512.1:n.4385+3661_4385+3662insAAGATAAGAAGTTGGTA
ENST00000616114.4:c.4367+3661_4367+3662insAAGATAAGAAGTTGGTA ENSP00000483745.1:n.4367+3661_4367+3662insAAGATAAGAAGTTGGTA
ENST00000617051.4:c.4386-365_4386-364insAAGATAAGAAGTTGGTA ENSP00000484703.1:n.4386-365_4386-364insAAGATAAGAAGTTGGTA
ENST00000617271.4:c.4373+1404_4373+1405insAAGATAAGAAGTTGGTA ENSP00000478076.1:n.4373+1404_4373+1405insAAGATAAGAAGTTGGTA
ENST00000618301.4:c.593+3661_593+3662insAAGATAAGAAGTTGGTA ENSP00000482780.1:n.593+3661_593+3662insAAGATAAGAAGTTGGTA
ENST00000621708.4:c.4388+1404_4388+1405insAAGATAAGAAGTTGGTA ENSP00000484454.1:n.4388+1404_4388+1405insAAGATAAGAAGTTGGTA
ENST00000622048.4:c.4158-365_4158-364insAAGATAAGAAGTTGGTA ENSP00000482329.1:n.4158-365_4158-364insAAGATAAGAAGTTGGTA
NM_001142763.1:c.4389-374_4389-373insAAGATAAGAAGTTGGTA NP_001136235.1:n.4389-374_4389-373insAAGATAAGAAGTTGGTA
NM_001142764.1:c.4374-374_4374-373insAAGATAAGAAGTTGGTA NP_001136236.1:n.4374-374_4374-373insAAGATAAGAAGTTGGTA
NM_001142765.1:c.4161-374_4161-373insAAGATAAGAAGTTGGTA NP_001136237.1:n.4161-374_4161-373insAAGATAAGAAGTTGGTA
NM_001142766.1:c.4359-374_4359-373insAAGATAAGAAGTTGGTA NP_001136238.1:n.4359-374_4359-373insAAGATAAGAAGTTGGTA
NM_001142767.1:c.4248-374_4248-373insAAGATAAGAAGTTGGTA NP_001136239.1:n.4248-374_4248-373insAAGATAAGAAGTTGGTA
NM_001142768.1:c.4308-374_4308-373insAAGATAAGAAGTTGGTA NP_001136240.1:n.4308-374_4308-373insAAGATAAGAAGTTGGTA
NM_001142769.1:c.4409+1404_4409+1405insAAGATAAGAAGTTGGTA NP_001136241.1:n.4409+1404_4409+1405insAAGATAAGAAGTTGGTA
NM_001142770.1:c.4373+1404_4373+1405insAAGATAAGAAGTTGGTA NP_001136242.1:n.4373+1404_4373+1405insAAGATAAGAAGTTGGTA
NM_001142771.1:c.4388+1404_4388+1405insAAGATAAGAAGTTGGTA NP_001136243.1:n.4388+1404_4388+1405insAAGATAAGAAGTTGGTA
NM_001142772.1:c.4373+1404_4373+1405insAAGATAAGAAGTTGGTA NP_001136244.1:n.4373+1404_4373+1405insAAGATAAGAAGTTGGTA
NM_001142773.1:c.4299-374_4299-373insAAGATAAGAAGTTGGTA NP_001136245.1:n.4299-374_4299-373insAAGATAAGAAGTTGGTA
NM_033056.3:c.4368-374_4368-373insAAGATAAGAAGTTGGTA NP_149045.3:n.4368-374_4368-373insAAGATAAGAAGTTGGTA
NM_001142769.2:c.4409+1404_4409+1405insAAGATAAGAAGTTGGTA NP_001136241.1:n.4409+1404_4409+1405insAAGATAAGAAGTTGGTA
NM_001142770.2:c.4373+1404_4373+1405insAAGATAAGAAGTTGGTA NP_001136242.1:n.4373+1404_4373+1405insAAGATAAGAAGTTGGTA
NM_001354404.1:c.4302-374_4302-373insAAGATAAGAAGTTGGTA NP_001341333.1:n.4302-374_4302-373insAAGATAAGAAGTTGGTA
NM_001354411.1:c.4388+3661_4388+3662insAAGATAAGAAGTTGGTA NP_001341340.1:n.4388+3661_4388+3662insAAGATAAGAAGTTGGTA
NM_001354420.1:c.4367+3661_4367+3662insAAGATAAGAAGTTGGTA NP_001341349.1:n.4367+3661_4367+3662insAAGATAAGAAGTTGGTA
NM_001354429.1:c.4367+3661_4367+3662insAAGATAAGAAGTTGGTA NP_001341358.1:n.4367+3661_4367+3662insAAGATAAGAAGTTGGTA
XM_017016573.2:c.4388+1404_4388+1405insAAGATAAGAAGTTGGTA XP_016872062.1:n.4388+1404_4388+1405insAAGATAAGAAGTTGGTA
XR_001747192.2:n.5381-374_5381-373insAAGATAAGAAGTTGGTA
XR_001747193.2:n.5372-374_5372-373insAAGATAAGAAGTTGGTA
NM_001142763.2:c.4389-374_4389-373insAAGATAAGAAGTTGGTA NP_001136235.1:n.4389-374_4389-373insAAGATAAGAAGTTGGTA
NM_001142764.2:c.4374-374_4374-373insAAGATAAGAAGTTGGTA NP_001136236.1:n.4374-374_4374-373insAAGATAAGAAGTTGGTA
NM_001142765.2:c.4161-374_4161-373insAAGATAAGAAGTTGGTA NP_001136237.1:n.4161-374_4161-373insAAGATAAGAAGTTGGTA
NM_001142766.2:c.4359-374_4359-373insAAGATAAGAAGTTGGTA NP_001136238.1:n.4359-374_4359-373insAAGATAAGAAGTTGGTA
NM_001142768.2:c.4308-374_4308-373insAAGATAAGAAGTTGGTA NP_001136240.1:n.4308-374_4308-373insAAGATAAGAAGTTGGTA
NM_001142769.3:c.4409+1404_4409+1405insAAGATAAGAAGTTGGTA NP_001136241.1:n.4409+1404_4409+1405insAAGATAAGAAGTTGGTA
NM_001142770.3:c.4373+1404_4373+1405insAAGATAAGAAGTTGGTA NP_001136242.1:n.4373+1404_4373+1405insAAGATAAGAAGTTGGTA
NM_001142771.2:c.4388+1404_4388+1405insAAGATAAGAAGTTGGTA NP_001136243.1:n.4388+1404_4388+1405insAAGATAAGAAGTTGGTA
NM_001142772.2:c.4373+1404_4373+1405insAAGATAAGAAGTTGGTA NP_001136244.1:n.4373+1404_4373+1405insAAGATAAGAAGTTGGTA
NM_001142773.2:c.4299-374_4299-373insAAGATAAGAAGTTGGTA NP_001136245.1:n.4299-374_4299-373insAAGATAAGAAGTTGGTA
NM_001354411.2:c.4388+3661_4388+3662insAAGATAAGAAGTTGGTA NP_001341340.1:n.4388+3661_4388+3662insAAGATAAGAAGTTGGTA
NM_001354420.2:c.4367+3661_4367+3662insAAGATAAGAAGTTGGTA NP_001341349.1:n.4367+3661_4367+3662insAAGATAAGAAGTTGGTA
NM_001354429.2:c.4367+3661_4367+3662insAAGATAAGAAGTTGGTA NP_001341358.1:n.4367+3661_4367+3662insAAGATAAGAAGTTGGTA
NM_033056.4:c.4368-374_4368-373insAAGATAAGAAGTTGGTA MANE Plus Clinical NP_149045.3:n.4368-374_4368-373insAAGATAAGAAGTTGGTA
NM_001142767.2:c.4248-374_4248-373insAAGATAAGAAGTTGGTA NP_001136239.1:n.4248-374_4248-373insAAGATAAGAAGTTGGTA
NM_001354404.2:c.4302-374_4302-373insAAGATAAGAAGTTGGTA NP_001341333.1:n.4302-374_4302-373insAAGATAAGAAGTTGGTA
NM_001384140.1:c.4368-3502_4368-3501insAAGATAAGAAGTTGGTA MANE Select NP_001371069.1:n.4368-3502_4368-3501insAAGATAAGAAGTTGGTA
Search 100 bp 5'
Search 100 bp 3'