Canonical Allele Identifier: CA16041361
Gene: PCDH15 HGNC NCBI

Linked Data

ClinVar Variation Id: 370804
ClinVar RCV Id: RCV000410014
dbSNP Id: rs1057516780
MyVariant Identifiers: chr10:g.55600174_55600178dupCATCT (hg19) chr10:g.55600173_55600174insCATCT (hg19) chr10:g.53840414_53840418dupCATCT (hg38) chr10:g.53840413_53840414insCATCT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53840415_53840419dup , CM000672.2:g.53840415_53840419dup GRCh38
NC_000010.10:g.55600175_55600179dup , CM000672.1:g.55600175_55600179dup GRCh37
NC_000010.9:g.55270181_55270185dup NCBI36
NG_009191.2:g.965874_965878dup
NG_009191.3:g.1793765_1793769dup

Transcript Alleles

HGVS Amino-acid change
ENST00000613657.6:c.3921_3925dup ENSP00000482794.1:p.Ala1309GlufsTer6
ENST00000320301.11:c.3885_3889dup MANE Plus Clinical ENSP00000322604.6:p.Ala1297GlufsTer6
ENST00000395445.6:c.3906_3910dup ENSP00000378832.2:p.Ala1304GlufsTer6
ENST00000613657.5:c.3921_3925dup ENSP00000482794.1:p.Ala1309GlufsTer6
ENST00000642496.1:c.2744_2748dup
ENST00000644397.2:c.3885_3889dup MANE Select ENSP00000495195.1:p.Ala1297GlufsTer6
ENST00000320301.10:c.3885_3889dup ENSP00000322604.6:p.Ala1297GlufsTer6
ENST00000361849.7:c.3885_3889dup ENSP00000354950.3:p.Ala1297GlufsTer6
ENST00000373956.7:c.*1840_*1844dup ENSP00000363067.4:n.*1840_*1844dup
ENST00000373957.7:c.3900_3904dup ENSP00000363068.4:p.Ala1302GlufsTer6
ENST00000373965.6:c.3885_3889dup ENSP00000363076.3:p.Ala1297GlufsTer6
ENST00000395430.5:c.3885_3889dup ENSP00000378818.1:p.Ala1297GlufsTer6
ENST00000395432.6:c.3774_3778dup ENSP00000378820.2:p.Ala1260GlufsTer6
ENST00000395433.5:c.3819_3823dup ENSP00000378821.1:p.Ala1275GlufsTer6
ENST00000395438.5:c.3885_3889dup ENSP00000378826.2:p.Ala1297GlufsTer6
ENST00000395440.5:c.1306-30872_1306-30868dup ENSP00000378827.1:n.1306-30872_1306-30868...
ENST00000395442.5:c.1099-30872_1099-30868dup ENSP00000378829.1:n.1099-30872_1099-30868...
ENST00000395445.5:c.3906_3910dup ENSP00000378832.2:p.Ala1304GlufsTer6
ENST00000395446.5:c.2092-30872_2092-30868dup ENSP00000378833.1:n.2092-30872_2092-30868...
ENST00000409834.5:c.2718_2722dup ENSP00000386693.1:p.Ala908GlufsTer6
ENST00000414367.5:c.955_959dup ENSP00000412531.1:p.Cys320Ter
ENST00000414778.5:c.3885_3889dup ENSP00000410304.2:p.Ala1297GlufsTer6
ENST00000437009.5:c.3672_3676dup ENSP00000412628.2:p.Ala1226GlufsTer6
ENST00000448885.5:c.*1840_*1844dup ENSP00000412320.1:n.*1840_*1844dup
ENST00000463095.2:n.904_908dup
ENST00000495484.5:c.144_148dup ENSP00000480780.1:p.Ala50GlufsTer6
ENST00000612394.4:c.3921_3925dup ENSP00000482921.1:p.Ala1309GlufsTer6
ENST00000613657.4:c.3921_3925dup ENSP00000482794.1:p.Ala1309GlufsTer6
ENST00000614895.4:c.3900_3904dup ENSP00000478512.1:p.Ala1302GlufsTer6
ENST00000616114.4:c.3885_3889dup ENSP00000483745.1:p.Ala1297GlufsTer6
ENST00000617051.4:c.3900_3904dup ENSP00000484703.1:p.Ala1302GlufsTer6
ENST00000617271.4:c.3885_3889dup ENSP00000478076.1:p.Ala1297GlufsTer6
ENST00000618301.4:c.111_115dup ENSP00000482780.1:p.Ala39GlufsTer6
ENST00000621708.4:c.3900_3904dup ENSP00000484454.1:p.Ala1302GlufsTer6
ENST00000622048.4:c.3672_3676dup ENSP00000482329.1:p.Ala1226GlufsTer6
NM_001142763.1:c.3900_3904dup NP_001136235.1:p.Ala1302GlufsTer6
NM_001142764.1:c.3885_3889dup NP_001136236.1:p.Ala1297GlufsTer6
NM_001142765.1:c.3672_3676dup NP_001136237.1:p.Ala1226GlufsTer6
NM_001142766.1:c.3885_3889dup NP_001136238.1:p.Ala1297GlufsTer6
NM_001142767.1:c.3774_3778dup NP_001136239.1:p.Ala1260GlufsTer6
NM_001142768.1:c.3819_3823dup NP_001136240.1:p.Ala1275GlufsTer6
NM_001142769.1:c.3921_3925dup NP_001136241.1:p.Ala1309GlufsTer6
NM_001142770.1:c.3885_3889dup NP_001136242.1:p.Ala1297GlufsTer6
NM_001142771.1:c.3900_3904dup NP_001136243.1:p.Ala1302GlufsTer6
NM_001142772.1:c.3885_3889dup NP_001136244.1:p.Ala1297GlufsTer6
NM_001142773.1:c.3819_3823dup NP_001136245.1:p.Ala1275GlufsTer6
NM_033056.3:c.3885_3889dup NP_149045.3:p.Ala1297GlufsTer6
NM_001142769.2:c.3921_3925dup NP_001136241.1:p.Ala1309GlufsTer6
NM_001142770.2:c.3885_3889dup NP_001136242.1:p.Ala1297GlufsTer6
NM_001354404.1:c.3819_3823dup NP_001341333.1:p.Ala1275GlufsTer6
NM_001354411.1:c.3906_3910dup NP_001341340.1:p.Ala1304GlufsTer6
NM_001354420.1:c.3885_3889dup NP_001341349.1:p.Ala1297GlufsTer6
NM_001354429.1:c.3885_3889dup NP_001341358.1:p.Ala1297GlufsTer6
XM_017016573.2:c.3900_3904dup XP_016872062.1:p.Ala1302GlufsTer6
XR_001747192.2:n.4898_4902dup
XR_001747193.2:n.4898_4902dup
NM_001142763.2:c.3900_3904dup NP_001136235.1:p.Ala1302GlufsTer6
NM_001142764.2:c.3885_3889dup NP_001136236.1:p.Ala1297GlufsTer6
NM_001142765.2:c.3672_3676dup NP_001136237.1:p.Ala1226GlufsTer6
NM_001142766.2:c.3885_3889dup NP_001136238.1:p.Ala1297GlufsTer6
NM_001142768.2:c.3819_3823dup NP_001136240.1:p.Ala1275GlufsTer6
NM_001142769.3:c.3921_3925dup NP_001136241.1:p.Ala1309GlufsTer6
NM_001142770.3:c.3885_3889dup NP_001136242.1:p.Ala1297GlufsTer6
NM_001142771.2:c.3900_3904dup NP_001136243.1:p.Ala1302GlufsTer6
NM_001142772.2:c.3885_3889dup NP_001136244.1:p.Ala1297GlufsTer6
NM_001142773.2:c.3819_3823dup NP_001136245.1:p.Ala1275GlufsTer6
NM_001354411.2:c.3906_3910dup NP_001341340.1:p.Ala1304GlufsTer6
NM_001354420.2:c.3885_3889dup NP_001341349.1:p.Ala1297GlufsTer6
NM_001354429.2:c.3885_3889dup NP_001341358.1:p.Ala1297GlufsTer6
NM_033056.4:c.3885_3889dup MANE Plus Clinical NP_149045.3:p.Ala1297GlufsTer6
NM_001142767.2:c.3774_3778dup NP_001136239.1:p.Ala1260GlufsTer6
NM_001354404.2:c.3819_3823dup NP_001341333.1:p.Ala1275GlufsTer6
NM_001384140.1:c.3885_3889dup MANE Select NP_001371069.1:p.Ala1297GlufsTer6
Search 100 bp 5'
Search 100 bp 3'