Canonical Allele Identifier: CA1910736996

Gene: PCDH15

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53822007_53822011delinsAGTTT , CM000672.2:g.53822007_53822011delinsAGTTT	GRCh38
NC_000010.10:g.55581767_55581771delinsAGTTT , CM000672.1:g.55581767_55581771delinsAGTTT	GRCh37
NC_000010.9:g.55251773_55251777delinsAGTTT	NCBI36
NG_009191.2:g.984281_984285delinsAAACT
NG_009191.3:g.1812172_1812176delinsAAACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613657.6:c.4409+3125_4409+3129delinsAAACT	ENSP00000482794.1:n.4409+3125_4409+3129delinsAAACT
ENST00000320301.11:c.5715_5719delinsAAACT MANE Plus Clinical	ENSP00000322604.6:p.Lys1905=
ENST00000395445.6:c.4388+5382_4388+5386delinsAAACT	ENSP00000378832.2:n.4388+5382_4388+5386delinsAAACT
ENST00000613657.5:c.4409+3125_4409+3129delinsAAACT	ENSP00000482794.1:n.4409+3125_4409+3129delinsAAACT
ENST00000642496.1:c.3227-1781_3227-1777delinsAAACT
ENST00000644397.2:c.4368-1781_4368-1777delinsAAACT MANE Select	ENSP00000495195.1:n.4368-1781_4368-1777delinsAAACT
ENST00000320301.10:c.5715_5719delinsAAACT	ENSP00000322604.6:p.Lys1905=
ENST00000361849.7:c.5721_5725delinsAAACT	ENSP00000354950.3:p.Lys1907=
ENST00000373956.7:c.*3670_*3674delinsAAACT	ENSP00000363067.4:n.*3670_*3674delinsAAACT
ENST00000373957.7:c.5736_5740delinsAAACT	ENSP00000363068.4:p.Lys1912=
ENST00000373965.6:c.4373+3125_4373+3129delinsAAACT	ENSP00000363076.3:n.4373+3125_4373+3129delinsAAACT
ENST00000395430.5:c.5706_5710delinsAAACT	ENSP00000378818.1:p.Lys1902=
ENST00000395432.6:c.5595_5599delinsAAACT	ENSP00000378820.2:p.Lys1865=
ENST00000395433.5:c.5646_5650delinsAAACT	ENSP00000378821.1:p.Lys1882=
ENST00000395438.5:c.4371+5381_4371+5385delinsAAACT	ENSP00000378826.2:n.4371+5381_4371+5385delinsAAACT
ENST00000395440.5:c.1306-12465_1306-12461delinsAAACT	ENSP00000378827.1:n.1306-12465_1306-12461delinsAAACT
ENST00000395442.5:c.1099-12465_1099-12461delinsAAACT	ENSP00000378829.1:n.1099-12465_1099-12461delinsAAACT
ENST00000395445.5:c.4388+5382_4388+5386delinsAAACT	ENSP00000378832.2:n.4388+5382_4388+5386delinsAAACT
ENST00000395446.5:c.2092-12465_2092-12461delinsAAACT	ENSP00000378833.1:n.2092-12465_2092-12461delinsAAACT
ENST00000409834.5:c.3206+3125_3206+3129delinsAAACT	ENSP00000386693.1:n.3206+3125_3206+3129delinsAAACT
ENST00000414367.5:c.*447+5382_*447+5386delinsAAACT	ENSP00000412531.1:n.*447+5382_*447+5386delinsAAACT
ENST00000414778.5:c.4370+5382_4370+5386delinsAAACT	ENSP00000410304.2:n.4370+5382_4370+5386delinsAAACT
ENST00000437009.5:c.5508_5512delinsAAACT	ENSP00000412628.2:p.Lys1836=
ENST00000448885.5:c.*3676_*3680delinsAAACT	ENSP00000412320.1:n.*3676_*3680delinsAAACT
ENST00000463095.2:n.2734_2738delinsAAACT
ENST00000495484.5:c.462-3998_462-3994delinsAAACT	ENSP00000480780.1:n.462-3998_462-3994delinsAAACT
ENST00000612394.4:c.4406+5382_4406+5386delinsAAACT	ENSP00000482921.1:n.4406+5382_4406+5386delinsAAACT
ENST00000613657.4:c.4409+3125_4409+3129delinsAAACT	ENSP00000482794.1:n.4409+3125_4409+3129delinsAAACT
ENST00000614895.4:c.4385+5382_4385+5386delinsAAACT	ENSP00000478512.1:n.4385+5382_4385+5386delinsAAACT
ENST00000616114.4:c.4367+5382_4367+5386delinsAAACT	ENSP00000483745.1:n.4367+5382_4367+5386delinsAAACT
ENST00000617051.4:c.5742_5746delinsAAACT	ENSP00000484703.1:p.Lys1914=
ENST00000617271.4:c.4373+3125_4373+3129delinsAAACT	ENSP00000478076.1:n.4373+3125_4373+3129delinsAAACT
ENST00000618301.4:c.594-3998_594-3994delinsAAACT	ENSP00000482780.1:n.594-3998_594-3994delinsAAACT
ENST00000621708.4:c.4388+3125_4388+3129delinsAAACT	ENSP00000484454.1:n.4388+3125_4388+3129delinsAAACT
ENST00000622048.4:c.5514_5518delinsAAACT	ENSP00000482329.1:p.Lys1838=
NM_001142763.1:c.5736_5740delinsAAACT	NP_001136235.1:p.Lys1912=
NM_001142764.1:c.5721_5725delinsAAACT	NP_001136236.1:p.Lys1907=
NM_001142765.1:c.5508_5512delinsAAACT	NP_001136237.1:p.Lys1836=
NM_001142766.1:c.5706_5710delinsAAACT	NP_001136238.1:p.Lys1902=
NM_001142767.1:c.5595_5599delinsAAACT	NP_001136239.1:p.Lys1865=
NM_001142768.1:c.5655_5659delinsAAACT	NP_001136240.1:p.Lys1885=
NM_001142769.1:c.4409+3125_4409+3129delinsAAACT	NP_001136241.1:n.4409+3125_4409+3129delinsAAACT
NM_001142770.1:c.4373+3125_4373+3129delinsAAACT	NP_001136242.1:n.4373+3125_4373+3129delinsAAACT
NM_001142771.1:c.4388+3125_4388+3129delinsAAACT	NP_001136243.1:n.4388+3125_4388+3129delinsAAACT
NM_001142772.1:c.4373+3125_4373+3129delinsAAACT	NP_001136244.1:n.4373+3125_4373+3129delinsAAACT
NM_001142773.1:c.5646_5650delinsAAACT	NP_001136245.1:p.Lys1882=
NM_033056.3:c.5715_5719delinsAAACT	NP_149045.3:p.Lys1905=
NM_001142769.2:c.4409+3125_4409+3129delinsAAACT	NP_001136241.1:n.4409+3125_4409+3129delinsAAACT
NM_001142770.2:c.4373+3125_4373+3129delinsAAACT	NP_001136242.1:n.4373+3125_4373+3129delinsAAACT
NM_001354404.1:c.5649_5653delinsAAACT	NP_001341333.1:p.Lys1883=
NM_001354411.1:c.4388+5382_4388+5386delinsAAACT	NP_001341340.1:n.4388+5382_4388+5386delinsAAACT
NM_001354420.1:c.4367+5382_4367+5386delinsAAACT	NP_001341349.1:n.4367+5382_4367+5386delinsAAACT
NM_001354429.1:c.4368-3998_4368-3994delinsAAACT	NP_001341358.1:n.4368-3998_4368-3994delinsAAACT
XM_017016573.2:c.4388+3125_4388+3129delinsAAACT	XP_016872062.1:n.4388+3125_4388+3129delinsAAACT
XR_001747192.2:n.6728_6732delinsAAACT
XR_001747193.2:n.6719_6723delinsAAACT
NM_001142763.2:c.5736_5740delinsAAACT	NP_001136235.1:p.Lys1912=
NM_001142764.2:c.5721_5725delinsAAACT	NP_001136236.1:p.Lys1907=
NM_001142765.2:c.5508_5512delinsAAACT	NP_001136237.1:p.Lys1836=
NM_001142766.2:c.5706_5710delinsAAACT	NP_001136238.1:p.Lys1902=
NM_001142768.2:c.5655_5659delinsAAACT	NP_001136240.1:p.Lys1885=
NM_001142769.3:c.4409+3125_4409+3129delinsAAACT	NP_001136241.1:n.4409+3125_4409+3129delinsAAACT
NM_001142770.3:c.4373+3125_4373+3129delinsAAACT	NP_001136242.1:n.4373+3125_4373+3129delinsAAACT
NM_001142771.2:c.4388+3125_4388+3129delinsAAACT	NP_001136243.1:n.4388+3125_4388+3129delinsAAACT
NM_001142772.2:c.4373+3125_4373+3129delinsAAACT	NP_001136244.1:n.4373+3125_4373+3129delinsAAACT
NM_001142773.2:c.5646_5650delinsAAACT	NP_001136245.1:p.Lys1882=
NM_001354411.2:c.4388+5382_4388+5386delinsAAACT	NP_001341340.1:n.4388+5382_4388+5386delinsAAACT
NM_001354420.2:c.4367+5382_4367+5386delinsAAACT	NP_001341349.1:n.4367+5382_4367+5386delinsAAACT
NM_001354429.2:c.4368-3998_4368-3994delinsAAACT	NP_001341358.1:n.4368-3998_4368-3994delinsAAACT
NM_033056.4:c.5715_5719delinsAAACT MANE Plus Clinical	NP_149045.3:p.Lys1905=
NM_001142767.2:c.5595_5599delinsAAACT	NP_001136239.1:p.Lys1865=
NM_001354404.2:c.5649_5653delinsAAACT	NP_001341333.1:p.Lys1883=
NM_001384140.1:c.4368-1781_4368-1777delinsAAACT MANE Select	NP_001371069.1:n.4368-1781_4368-1777delinsAAACT