Canonical Allele Identifier: CA1910738100

Gene: PCDH15

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53822317_53822318delinsAG , CM000672.2:g.53822317_53822318delinsAG	GRCh38
NC_000010.10:g.55582077_55582078delinsAG , CM000672.1:g.55582077_55582078delinsAG	GRCh37
NC_000010.9:g.55252083_55252084delinsAG	NCBI36
NG_009191.2:g.983974_983975delinsCT
NG_009191.3:g.1811865_1811866delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613657.6:c.4409+2818_4409+2819delinsCT	ENSP00000482794.1:n.4409+2818_4409+2819delinsCT
ENST00000320301.11:c.5408_5409delinsCT MANE Plus Clinical	ENSP00000322604.6:p.Ser1803=
ENST00000395445.6:c.4388+5075_4388+5076delinsCT	ENSP00000378832.2:n.4388+5075_4388+5076delinsCT
ENST00000613657.5:c.4409+2818_4409+2819delinsCT	ENSP00000482794.1:n.4409+2818_4409+2819delinsCT
ENST00000642496.1:c.3227-2088_3227-2087delinsCT
ENST00000644397.2:c.4368-2088_4368-2087delinsCT MANE Select	ENSP00000495195.1:n.4368-2088_4368-2087delinsCT
ENST00000320301.10:c.5408_5409delinsCT	ENSP00000322604.6:p.Ser1803=
ENST00000361849.7:c.5414_5415delinsCT	ENSP00000354950.3:p.Ser1805=
ENST00000373956.7:c.*3363_*3364delinsCT	ENSP00000363067.4:n.*3363_*3364delinsCT
ENST00000373957.7:c.5429_5430delinsCT	ENSP00000363068.4:p.Ser1810=
ENST00000373965.6:c.4373+2818_4373+2819delinsCT	ENSP00000363076.3:n.4373+2818_4373+2819delinsCT
ENST00000395430.5:c.5399_5400delinsCT	ENSP00000378818.1:p.Ser1800=
ENST00000395432.6:c.5288_5289delinsCT	ENSP00000378820.2:p.Ser1763=
ENST00000395433.5:c.5339_5340delinsCT	ENSP00000378821.1:p.Ser1780=
ENST00000395438.5:c.4371+5074_4371+5075delinsCT	ENSP00000378826.2:n.4371+5074_4371+5075delinsCT
ENST00000395440.5:c.1306-12772_1306-12771delinsCT	ENSP00000378827.1:n.1306-12772_1306-12771delinsCT
ENST00000395442.5:c.1099-12772_1099-12771delinsCT	ENSP00000378829.1:n.1099-12772_1099-12771delinsCT
ENST00000395445.5:c.4388+5075_4388+5076delinsCT	ENSP00000378832.2:n.4388+5075_4388+5076delinsCT
ENST00000395446.5:c.2092-12772_2092-12771delinsCT	ENSP00000378833.1:n.2092-12772_2092-12771delinsCT
ENST00000409834.5:c.3206+2818_3206+2819delinsCT	ENSP00000386693.1:n.3206+2818_3206+2819delinsCT
ENST00000414367.5:c.*447+5075_*447+5076delinsCT	ENSP00000412531.1:n.*447+5075_*447+5076delinsCT
ENST00000414778.5:c.4370+5075_4370+5076delinsCT	ENSP00000410304.2:n.4370+5075_4370+5076delinsCT
ENST00000437009.5:c.5201_5202delinsCT	ENSP00000412628.2:p.Ser1734=
ENST00000448885.5:c.*3369_*3370delinsCT	ENSP00000412320.1:n.*3369_*3370delinsCT
ENST00000463095.2:n.2427_2428delinsCT
ENST00000495484.5:c.462-4305_462-4304delinsCT	ENSP00000480780.1:n.462-4305_462-4304delinsCT
ENST00000612394.4:c.4406+5075_4406+5076delinsCT	ENSP00000482921.1:n.4406+5075_4406+5076delinsCT
ENST00000613657.4:c.4409+2818_4409+2819delinsCT	ENSP00000482794.1:n.4409+2818_4409+2819delinsCT
ENST00000614895.4:c.4385+5075_4385+5076delinsCT	ENSP00000478512.1:n.4385+5075_4385+5076delinsCT
ENST00000616114.4:c.4367+5075_4367+5076delinsCT	ENSP00000483745.1:n.4367+5075_4367+5076delinsCT
ENST00000617051.4:c.5435_5436delinsCT	ENSP00000484703.1:p.Ser1812=
ENST00000617271.4:c.4373+2818_4373+2819delinsCT	ENSP00000478076.1:n.4373+2818_4373+2819delinsCT
ENST00000618301.4:c.594-4305_594-4304delinsCT	ENSP00000482780.1:n.594-4305_594-4304delinsCT
ENST00000621708.4:c.4388+2818_4388+2819delinsCT	ENSP00000484454.1:n.4388+2818_4388+2819delinsCT
ENST00000622048.4:c.5207_5208delinsCT	ENSP00000482329.1:p.Ser1736=
NM_001142763.1:c.5429_5430delinsCT	NP_001136235.1:p.Ser1810=
NM_001142764.1:c.5414_5415delinsCT	NP_001136236.1:p.Ser1805=
NM_001142765.1:c.5201_5202delinsCT	NP_001136237.1:p.Ser1734=
NM_001142766.1:c.5399_5400delinsCT	NP_001136238.1:p.Ser1800=
NM_001142767.1:c.5288_5289delinsCT	NP_001136239.1:p.Ser1763=
NM_001142768.1:c.5348_5349delinsCT	NP_001136240.1:p.Ser1783=
NM_001142769.1:c.4409+2818_4409+2819delinsCT	NP_001136241.1:n.4409+2818_4409+2819delinsCT
NM_001142770.1:c.4373+2818_4373+2819delinsCT	NP_001136242.1:n.4373+2818_4373+2819delinsCT
NM_001142771.1:c.4388+2818_4388+2819delinsCT	NP_001136243.1:n.4388+2818_4388+2819delinsCT
NM_001142772.1:c.4373+2818_4373+2819delinsCT	NP_001136244.1:n.4373+2818_4373+2819delinsCT
NM_001142773.1:c.5339_5340delinsCT	NP_001136245.1:p.Ser1780=
NM_033056.3:c.5408_5409delinsCT	NP_149045.3:p.Ser1803=
NM_001142769.2:c.4409+2818_4409+2819delinsCT	NP_001136241.1:n.4409+2818_4409+2819delinsCT
NM_001142770.2:c.4373+2818_4373+2819delinsCT	NP_001136242.1:n.4373+2818_4373+2819delinsCT
NM_001354404.1:c.5342_5343delinsCT	NP_001341333.1:p.Ser1781=
NM_001354411.1:c.4388+5075_4388+5076delinsCT	NP_001341340.1:n.4388+5075_4388+5076delinsCT
NM_001354420.1:c.4367+5075_4367+5076delinsCT	NP_001341349.1:n.4367+5075_4367+5076delinsCT
NM_001354429.1:c.4368-4305_4368-4304delinsCT	NP_001341358.1:n.4368-4305_4368-4304delinsCT
XM_017016573.2:c.4388+2818_4388+2819delinsCT	XP_016872062.1:n.4388+2818_4388+2819delinsCT
XR_001747192.2:n.6421_6422delinsCT
XR_001747193.2:n.6412_6413delinsCT
NM_001142763.2:c.5429_5430delinsCT	NP_001136235.1:p.Ser1810=
NM_001142764.2:c.5414_5415delinsCT	NP_001136236.1:p.Ser1805=
NM_001142765.2:c.5201_5202delinsCT	NP_001136237.1:p.Ser1734=
NM_001142766.2:c.5399_5400delinsCT	NP_001136238.1:p.Ser1800=
NM_001142768.2:c.5348_5349delinsCT	NP_001136240.1:p.Ser1783=
NM_001142769.3:c.4409+2818_4409+2819delinsCT	NP_001136241.1:n.4409+2818_4409+2819delinsCT
NM_001142770.3:c.4373+2818_4373+2819delinsCT	NP_001136242.1:n.4373+2818_4373+2819delinsCT
NM_001142771.2:c.4388+2818_4388+2819delinsCT	NP_001136243.1:n.4388+2818_4388+2819delinsCT
NM_001142772.2:c.4373+2818_4373+2819delinsCT	NP_001136244.1:n.4373+2818_4373+2819delinsCT
NM_001142773.2:c.5339_5340delinsCT	NP_001136245.1:p.Ser1780=
NM_001354411.2:c.4388+5075_4388+5076delinsCT	NP_001341340.1:n.4388+5075_4388+5076delinsCT
NM_001354420.2:c.4367+5075_4367+5076delinsCT	NP_001341349.1:n.4367+5075_4367+5076delinsCT
NM_001354429.2:c.4368-4305_4368-4304delinsCT	NP_001341358.1:n.4368-4305_4368-4304delinsCT
NM_033056.4:c.5408_5409delinsCT MANE Plus Clinical	NP_149045.3:p.Ser1803=
NM_001142767.2:c.5288_5289delinsCT	NP_001136239.1:p.Ser1763=
NM_001354404.2:c.5342_5343delinsCT	NP_001341333.1:p.Ser1781=
NM_001384140.1:c.4368-2088_4368-2087delinsCT MANE Select	NP_001371069.1:n.4368-2088_4368-2087delinsCT