Canonical Allele Identifier: CA5504959
Gene: PCDH15 HGNC NCBI

Linked Data

ClinVar Variation Id: 550181
ClinVar RCV Id: RCV000664851
dbSNP Id: rs755876430
ExAC: 10:55581669 A / ATTGTTCAAACTCCCCTTGT
gnomAD v2: 10-55581669-A-ATTGTTCAAACTCCCCTTGT
gnomAD v4: 10-53821909-A-ATTGTTCAAACTCCCCTTGT
MyVariant Identifiers: chr10:g.55581669_55581670insTTGTTCAAACTCCCCTTGT (hg19) chr10:g.53821910_53821928dup (hg38) chr10:g.53821909_53821910insTTGTTCAAACTCCCCTTGT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53821912_53821930dup , CM000672.2:g.53821912_53821930dup GRCh38
NC_000010.10:g.55581672_55581690dup , CM000672.1:g.55581672_55581690dup GRCh37
NC_000010.9:g.55251678_55251696dup NCBI36
NG_009191.2:g.984364_984382dup
NG_009191.3:g.1812255_1812273dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000613657.6:c.4409+3208_4409+3226dup ENSP00000482794.1:n.4409+3208_4409+3226dup
ENST00000320301.11:c.5798_5816dup MANE Plus Clinical ENSP00000322604.6:p.Asn1939LysfsTer13
ENST00000395445.6:c.4388+5465_4388+5483dup ENSP00000378832.2:n.4388+5465_4388+5483dup
ENST00000613657.5:c.4409+3208_4409+3226dup ENSP00000482794.1:n.4409+3208_4409+3226dup
ENST00000642496.1:c.3227-1698_3227-1680dup
ENST00000644397.2:c.4368-1698_4368-1680dup MANE Select ENSP00000495195.1:n.4368-1698_4368-1680dup
ENST00000320301.10:c.5798_5816dup ENSP00000322604.6:p.Asn1939LysfsTer13
ENST00000361849.7:c.5804_5822dup ENSP00000354950.3:p.Asn1941LysfsTer13
ENST00000373956.7:c.*3753_*3771dup ENSP00000363067.4:n.*3753_*3771dup
ENST00000373957.7:c.5819_5837dup ENSP00000363068.4:p.Asn1946LysfsTer13
ENST00000373965.6:c.4373+3208_4373+3226dup ENSP00000363076.3:n.4373+3208_4373+3226dup
ENST00000395430.5:c.5789_5807dup ENSP00000378818.1:p.Asn1936LysfsTer13
ENST00000395432.6:c.5678_5696dup ENSP00000378820.2:p.Asn1899LysfsTer13
ENST00000395433.5:c.5729_5747dup ENSP00000378821.1:p.Asn1916LysfsTer13
ENST00000395438.5:c.4371+5464_4371+5482dup ENSP00000378826.2:n.4371+5464_4371+5482dup
ENST00000395440.5:c.1306-12382_1306-12364dup ENSP00000378827.1:n.1306-12382_1306-12364dup
ENST00000395442.5:c.1099-12382_1099-12364dup ENSP00000378829.1:n.1099-12382_1099-12364dup
ENST00000395445.5:c.4388+5465_4388+5483dup ENSP00000378832.2:n.4388+5465_4388+5483dup
ENST00000395446.5:c.2092-12382_2092-12364dup ENSP00000378833.1:n.2092-12382_2092-12364dup
ENST00000409834.5:c.3206+3208_3206+3226dup ENSP00000386693.1:n.3206+3208_3206+3226dup
ENST00000414367.5:c.*447+5465_*447+5483dup ENSP00000412531.1:n.*447+5465_*447+5483dup
ENST00000414778.5:c.4370+5465_4370+5483dup ENSP00000410304.2:n.4370+5465_4370+5483dup
ENST00000437009.5:c.5591_5609dup ENSP00000412628.2:p.Asn1870LysfsTer13
ENST00000448885.5:c.*3759_*3777dup ENSP00000412320.1:n.*3759_*3777dup
ENST00000463095.2:n.2817_2835dup
ENST00000495484.5:c.462-3915_462-3897dup ENSP00000480780.1:n.462-3915_462-3897dup
ENST00000612394.4:c.4406+5465_4406+5483dup ENSP00000482921.1:n.4406+5465_4406+5483dup
ENST00000613657.4:c.4409+3208_4409+3226dup ENSP00000482794.1:n.4409+3208_4409+3226dup
ENST00000614895.4:c.4385+5465_4385+5483dup ENSP00000478512.1:n.4385+5465_4385+5483dup
ENST00000616114.4:c.4367+5465_4367+5483dup ENSP00000483745.1:n.4367+5465_4367+5483dup
ENST00000617051.4:c.5825_5843dup ENSP00000484703.1:p.Asn1948LysfsTer13
ENST00000617271.4:c.4373+3208_4373+3226dup ENSP00000478076.1:n.4373+3208_4373+3226dup
ENST00000618301.4:c.594-3915_594-3897dup ENSP00000482780.1:n.594-3915_594-3897dup
ENST00000621708.4:c.4388+3208_4388+3226dup ENSP00000484454.1:n.4388+3208_4388+3226dup
ENST00000622048.4:c.5597_5615dup ENSP00000482329.1:p.Asn1872LysfsTer13
NM_001142763.1:c.5819_5837dup NP_001136235.1:p.Asn1946LysfsTer13
NM_001142764.1:c.5804_5822dup NP_001136236.1:p.Asn1941LysfsTer13
NM_001142765.1:c.5591_5609dup NP_001136237.1:p.Asn1870LysfsTer13
NM_001142766.1:c.5789_5807dup NP_001136238.1:p.Asn1936LysfsTer13
NM_001142767.1:c.5678_5696dup NP_001136239.1:p.Asn1899LysfsTer13
NM_001142768.1:c.5738_5756dup NP_001136240.1:p.Asn1919LysfsTer13
NM_001142769.1:c.4409+3208_4409+3226dup NP_001136241.1:n.4409+3208_4409+3226dup
NM_001142770.1:c.4373+3208_4373+3226dup NP_001136242.1:n.4373+3208_4373+3226dup
NM_001142771.1:c.4388+3208_4388+3226dup NP_001136243.1:n.4388+3208_4388+3226dup
NM_001142772.1:c.4373+3208_4373+3226dup NP_001136244.1:n.4373+3208_4373+3226dup
NM_001142773.1:c.5729_5747dup NP_001136245.1:p.Asn1916LysfsTer13
NM_033056.3:c.5798_5816dup NP_149045.3:p.Asn1939LysfsTer13
NM_001142769.2:c.4409+3208_4409+3226dup NP_001136241.1:n.4409+3208_4409+3226dup
NM_001142770.2:c.4373+3208_4373+3226dup NP_001136242.1:n.4373+3208_4373+3226dup
NM_001354404.1:c.5732_5750dup NP_001341333.1:p.Asn1917LysfsTer13
NM_001354411.1:c.4388+5465_4388+5483dup NP_001341340.1:n.4388+5465_4388+5483dup
NM_001354420.1:c.4367+5465_4367+5483dup NP_001341349.1:n.4367+5465_4367+5483dup
NM_001354429.1:c.4368-3915_4368-3897dup NP_001341358.1:n.4368-3915_4368-3897dup
XM_017016573.2:c.4388+3208_4388+3226dup XP_016872062.1:n.4388+3208_4388+3226dup
XR_001747192.2:n.6811_6829dup
XR_001747193.2:n.6802_6820dup
NM_001142763.2:c.5819_5837dup NP_001136235.1:p.Asn1946LysfsTer13
NM_001142764.2:c.5804_5822dup NP_001136236.1:p.Asn1941LysfsTer13
NM_001142765.2:c.5591_5609dup NP_001136237.1:p.Asn1870LysfsTer13
NM_001142766.2:c.5789_5807dup NP_001136238.1:p.Asn1936LysfsTer13
NM_001142768.2:c.5738_5756dup NP_001136240.1:p.Asn1919LysfsTer13
NM_001142769.3:c.4409+3208_4409+3226dup NP_001136241.1:n.4409+3208_4409+3226dup
NM_001142770.3:c.4373+3208_4373+3226dup NP_001136242.1:n.4373+3208_4373+3226dup
NM_001142771.2:c.4388+3208_4388+3226dup NP_001136243.1:n.4388+3208_4388+3226dup
NM_001142772.2:c.4373+3208_4373+3226dup NP_001136244.1:n.4373+3208_4373+3226dup
NM_001142773.2:c.5729_5747dup NP_001136245.1:p.Asn1916LysfsTer13
NM_001354411.2:c.4388+5465_4388+5483dup NP_001341340.1:n.4388+5465_4388+5483dup
NM_001354420.2:c.4367+5465_4367+5483dup NP_001341349.1:n.4367+5465_4367+5483dup
NM_001354429.2:c.4368-3915_4368-3897dup NP_001341358.1:n.4368-3915_4368-3897dup
NM_033056.4:c.5798_5816dup MANE Plus Clinical NP_149045.3:p.Asn1939LysfsTer13
NM_001142767.2:c.5678_5696dup NP_001136239.1:p.Asn1899LysfsTer13
NM_001354404.2:c.5732_5750dup NP_001341333.1:p.Asn1917LysfsTer13
NM_001384140.1:c.4368-1698_4368-1680dup MANE Select NP_001371069.1:n.4368-1698_4368-1680dup
Search 100 bp 5'
Search 100 bp 3'