Canonical Allele Identifier: CA666464336

Gene: PCDH15

Linked Data

• dbSNP Id: rs1207850304
• MyVariant Identifiers: chr10:g.55581697_55581701del (hg19) ; chr10:g.53821937_53821941del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53821940_53821944del , CM000672.2:g.53821940_53821944del	GRCh38
NC_000010.10:g.55581700_55581704del , CM000672.1:g.55581700_55581704del	GRCh37
NC_000010.9:g.55251706_55251710del	NCBI36
NG_009191.2:g.984351_984355del
NG_009191.3:g.1812242_1812246del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613657.6:c.4409+3195_4409+3199del	ENSP00000482794.1:n.4409+3195_4409+3199del
ENST00000320301.11:c.5785_5789del MANE Plus Clinical	ENSP00000322604.6:p.Thr1929Ter
ENST00000395445.6:c.4388+5452_4388+5456del	ENSP00000378832.2:n.4388+5452_4388+5456del
ENST00000613657.5:c.4409+3195_4409+3199del	ENSP00000482794.1:n.4409+3195_4409+3199del
ENST00000642496.1:c.3227-1711_3227-1707del
ENST00000644397.2:c.4368-1711_4368-1707del MANE Select	ENSP00000495195.1:n.4368-1711_4368-1707del
ENST00000320301.10:c.5785_5789del	ENSP00000322604.6:p.Thr1929Ter
ENST00000361849.7:c.5791_5795del	ENSP00000354950.3:p.Thr1931Ter
ENST00000373956.7:c.*3740_*3744del	ENSP00000363067.4:n.*3740_*3744del
ENST00000373957.7:c.5806_5810del	ENSP00000363068.4:p.Thr1936Ter
ENST00000373965.6:c.4373+3195_4373+3199del	ENSP00000363076.3:n.4373+3195_4373+3199del
ENST00000395430.5:c.5776_5780del	ENSP00000378818.1:p.Thr1926Ter
ENST00000395432.6:c.5665_5669del	ENSP00000378820.2:p.Thr1889Ter
ENST00000395433.5:c.5716_5720del	ENSP00000378821.1:p.Thr1906Ter
ENST00000395438.5:c.4371+5451_4371+5455del	ENSP00000378826.2:n.4371+5451_4371+5455del
ENST00000395440.5:c.1306-12395_1306-12391del	ENSP00000378827.1:n.1306-12395_1306-12391del
ENST00000395442.5:c.1099-12395_1099-12391del	ENSP00000378829.1:n.1099-12395_1099-12391del
ENST00000395445.5:c.4388+5452_4388+5456del	ENSP00000378832.2:n.4388+5452_4388+5456del
ENST00000395446.5:c.2092-12395_2092-12391del	ENSP00000378833.1:n.2092-12395_2092-12391del
ENST00000409834.5:c.3206+3195_3206+3199del	ENSP00000386693.1:n.3206+3195_3206+3199del
ENST00000414367.5:c.*447+5452_*447+5456del	ENSP00000412531.1:n.*447+5452_*447+5456del
ENST00000414778.5:c.4370+5452_4370+5456del	ENSP00000410304.2:n.4370+5452_4370+5456del
ENST00000437009.5:c.5578_5582del	ENSP00000412628.2:p.Thr1860Ter
ENST00000448885.5:c.*3746_*3750del	ENSP00000412320.1:n.*3746_*3750del
ENST00000463095.2:n.2804_2808del
ENST00000495484.5:c.462-3928_462-3924del	ENSP00000480780.1:n.462-3928_462-3924del
ENST00000612394.4:c.4406+5452_4406+5456del	ENSP00000482921.1:n.4406+5452_4406+5456del
ENST00000613657.4:c.4409+3195_4409+3199del	ENSP00000482794.1:n.4409+3195_4409+3199del
ENST00000614895.4:c.4385+5452_4385+5456del	ENSP00000478512.1:n.4385+5452_4385+5456del
ENST00000616114.4:c.4367+5452_4367+5456del	ENSP00000483745.1:n.4367+5452_4367+5456del
ENST00000617051.4:c.5812_5816del	ENSP00000484703.1:p.Thr1938Ter
ENST00000617271.4:c.4373+3195_4373+3199del	ENSP00000478076.1:n.4373+3195_4373+3199del
ENST00000618301.4:c.594-3928_594-3924del	ENSP00000482780.1:n.594-3928_594-3924del
ENST00000621708.4:c.4388+3195_4388+3199del	ENSP00000484454.1:n.4388+3195_4388+3199del
ENST00000622048.4:c.5584_5588del	ENSP00000482329.1:p.Thr1862Ter
NM_001142763.1:c.5806_5810del	NP_001136235.1:p.Thr1936Ter
NM_001142764.1:c.5791_5795del	NP_001136236.1:p.Thr1931Ter
NM_001142765.1:c.5578_5582del	NP_001136237.1:p.Thr1860Ter
NM_001142766.1:c.5776_5780del	NP_001136238.1:p.Thr1926Ter
NM_001142767.1:c.5665_5669del	NP_001136239.1:p.Thr1889Ter
NM_001142768.1:c.5725_5729del	NP_001136240.1:p.Thr1909Ter
NM_001142769.1:c.4409+3195_4409+3199del	NP_001136241.1:n.4409+3195_4409+3199del
NM_001142770.1:c.4373+3195_4373+3199del	NP_001136242.1:n.4373+3195_4373+3199del
NM_001142771.1:c.4388+3195_4388+3199del	NP_001136243.1:n.4388+3195_4388+3199del
NM_001142772.1:c.4373+3195_4373+3199del	NP_001136244.1:n.4373+3195_4373+3199del
NM_001142773.1:c.5716_5720del	NP_001136245.1:p.Thr1906Ter
NM_033056.3:c.5785_5789del	NP_149045.3:p.Thr1929Ter
NM_001142769.2:c.4409+3195_4409+3199del	NP_001136241.1:n.4409+3195_4409+3199del
NM_001142770.2:c.4373+3195_4373+3199del	NP_001136242.1:n.4373+3195_4373+3199del
NM_001354404.1:c.5719_5723del	NP_001341333.1:p.Thr1907Ter
NM_001354411.1:c.4388+5452_4388+5456del	NP_001341340.1:n.4388+5452_4388+5456del
NM_001354420.1:c.4367+5452_4367+5456del	NP_001341349.1:n.4367+5452_4367+5456del
NM_001354429.1:c.4368-3928_4368-3924del	NP_001341358.1:n.4368-3928_4368-3924del
XM_017016573.2:c.4388+3195_4388+3199del	XP_016872062.1:n.4388+3195_4388+3199del
XR_001747192.2:n.6798_6802del
XR_001747193.2:n.6789_6793del
NM_001142763.2:c.5806_5810del	NP_001136235.1:p.Thr1936Ter
NM_001142764.2:c.5791_5795del	NP_001136236.1:p.Thr1931Ter
NM_001142765.2:c.5578_5582del	NP_001136237.1:p.Thr1860Ter
NM_001142766.2:c.5776_5780del	NP_001136238.1:p.Thr1926Ter
NM_001142768.2:c.5725_5729del	NP_001136240.1:p.Thr1909Ter
NM_001142769.3:c.4409+3195_4409+3199del	NP_001136241.1:n.4409+3195_4409+3199del
NM_001142770.3:c.4373+3195_4373+3199del	NP_001136242.1:n.4373+3195_4373+3199del
NM_001142771.2:c.4388+3195_4388+3199del	NP_001136243.1:n.4388+3195_4388+3199del
NM_001142772.2:c.4373+3195_4373+3199del	NP_001136244.1:n.4373+3195_4373+3199del
NM_001142773.2:c.5716_5720del	NP_001136245.1:p.Thr1906Ter
NM_001354411.2:c.4388+5452_4388+5456del	NP_001341340.1:n.4388+5452_4388+5456del
NM_001354420.2:c.4367+5452_4367+5456del	NP_001341349.1:n.4367+5452_4367+5456del
NM_001354429.2:c.4368-3928_4368-3924del	NP_001341358.1:n.4368-3928_4368-3924del
NM_033056.4:c.5785_5789del MANE Plus Clinical	NP_149045.3:p.Thr1929Ter
NM_001142767.2:c.5665_5669del	NP_001136239.1:p.Thr1889Ter
NM_001354404.2:c.5719_5723del	NP_001341333.1:p.Thr1907Ter
NM_001384140.1:c.4368-1711_4368-1707del MANE Select	NP_001371069.1:n.4368-1711_4368-1707del