Canonical Allele Identifier: CA1910736814

Gene: PCDH15

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53821936_53821941delinsAGATGT , CM000672.2:g.53821936_53821941delinsAGATGT	GRCh38
NC_000010.10:g.55581696_55581701delinsAGATGT , CM000672.1:g.55581696_55581701delinsAGATGT	GRCh37
NC_000010.9:g.55251702_55251707delinsAGATGT	NCBI36
NG_009191.2:g.984351_984356delinsACATCT
NG_009191.3:g.1812242_1812247delinsACATCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613657.6:c.4409+3195_4409+3200delinsACATCT	ENSP00000482794.1:n.4409+3195_4409+3200delinsACATCT
ENST00000320301.11:c.5785_5790delinsACATCT MANE Plus Clinical	ENSP00000322604.6:p.Thr1929=
ENST00000395445.6:c.4388+5452_4388+5457delinsACATCT	ENSP00000378832.2:n.4388+5452_4388+5457delinsACATCT
ENST00000613657.5:c.4409+3195_4409+3200delinsACATCT	ENSP00000482794.1:n.4409+3195_4409+3200delinsACATCT
ENST00000642496.1:c.3227-1711_3227-1706delinsACATCT
ENST00000644397.2:c.4368-1711_4368-1706delinsACATCT MANE Select	ENSP00000495195.1:n.4368-1711_4368-1706delinsACATCT
ENST00000320301.10:c.5785_5790delinsACATCT	ENSP00000322604.6:p.Thr1929=
ENST00000361849.7:c.5791_5796delinsACATCT	ENSP00000354950.3:p.Thr1931=
ENST00000373956.7:c.*3740_*3745delinsACATCT	ENSP00000363067.4:n.*3740_*3745delinsACATCT
ENST00000373957.7:c.5806_5811delinsACATCT	ENSP00000363068.4:p.Thr1936=
ENST00000373965.6:c.4373+3195_4373+3200delinsACATCT	ENSP00000363076.3:n.4373+3195_4373+3200delinsACATCT
ENST00000395430.5:c.5776_5781delinsACATCT	ENSP00000378818.1:p.Thr1926=
ENST00000395432.6:c.5665_5670delinsACATCT	ENSP00000378820.2:p.Thr1889=
ENST00000395433.5:c.5716_5721delinsACATCT	ENSP00000378821.1:p.Thr1906=
ENST00000395438.5:c.4371+5451_4371+5456delinsACATCT	ENSP00000378826.2:n.4371+5451_4371+5456delinsACATCT
ENST00000395440.5:c.1306-12395_1306-12390delinsACATCT	ENSP00000378827.1:n.1306-12395_1306-12390delinsACATCT
ENST00000395442.5:c.1099-12395_1099-12390delinsACATCT	ENSP00000378829.1:n.1099-12395_1099-12390delinsACATCT
ENST00000395445.5:c.4388+5452_4388+5457delinsACATCT	ENSP00000378832.2:n.4388+5452_4388+5457delinsACATCT
ENST00000395446.5:c.2092-12395_2092-12390delinsACATCT	ENSP00000378833.1:n.2092-12395_2092-12390delinsACATCT
ENST00000409834.5:c.3206+3195_3206+3200delinsACATCT	ENSP00000386693.1:n.3206+3195_3206+3200delinsACATCT
ENST00000414367.5:c.*447+5452_*447+5457delinsACATCT	ENSP00000412531.1:n.*447+5452_*447+5457delinsACATCT
ENST00000414778.5:c.4370+5452_4370+5457delinsACATCT	ENSP00000410304.2:n.4370+5452_4370+5457delinsACATCT
ENST00000437009.5:c.5578_5583delinsACATCT	ENSP00000412628.2:p.Thr1860=
ENST00000448885.5:c.*3746_*3751delinsACATCT	ENSP00000412320.1:n.*3746_*3751delinsACATCT
ENST00000463095.2:n.2804_2809delinsACATCT
ENST00000495484.5:c.462-3928_462-3923delinsACATCT	ENSP00000480780.1:n.462-3928_462-3923delinsACATCT
ENST00000612394.4:c.4406+5452_4406+5457delinsACATCT	ENSP00000482921.1:n.4406+5452_4406+5457delinsACATCT
ENST00000613657.4:c.4409+3195_4409+3200delinsACATCT	ENSP00000482794.1:n.4409+3195_4409+3200delinsACATCT
ENST00000614895.4:c.4385+5452_4385+5457delinsACATCT	ENSP00000478512.1:n.4385+5452_4385+5457delinsACATCT
ENST00000616114.4:c.4367+5452_4367+5457delinsACATCT	ENSP00000483745.1:n.4367+5452_4367+5457delinsACATCT
ENST00000617051.4:c.5812_5817delinsACATCT	ENSP00000484703.1:p.Thr1938=
ENST00000617271.4:c.4373+3195_4373+3200delinsACATCT	ENSP00000478076.1:n.4373+3195_4373+3200delinsACATCT
ENST00000618301.4:c.594-3928_594-3923delinsACATCT	ENSP00000482780.1:n.594-3928_594-3923delinsACATCT
ENST00000621708.4:c.4388+3195_4388+3200delinsACATCT	ENSP00000484454.1:n.4388+3195_4388+3200delinsACATCT
ENST00000622048.4:c.5584_5589delinsACATCT	ENSP00000482329.1:p.Thr1862=
NM_001142763.1:c.5806_5811delinsACATCT	NP_001136235.1:p.Thr1936=
NM_001142764.1:c.5791_5796delinsACATCT	NP_001136236.1:p.Thr1931=
NM_001142765.1:c.5578_5583delinsACATCT	NP_001136237.1:p.Thr1860=
NM_001142766.1:c.5776_5781delinsACATCT	NP_001136238.1:p.Thr1926=
NM_001142767.1:c.5665_5670delinsACATCT	NP_001136239.1:p.Thr1889=
NM_001142768.1:c.5725_5730delinsACATCT	NP_001136240.1:p.Thr1909=
NM_001142769.1:c.4409+3195_4409+3200delinsACATCT	NP_001136241.1:n.4409+3195_4409+3200delinsACATCT
NM_001142770.1:c.4373+3195_4373+3200delinsACATCT	NP_001136242.1:n.4373+3195_4373+3200delinsACATCT
NM_001142771.1:c.4388+3195_4388+3200delinsACATCT	NP_001136243.1:n.4388+3195_4388+3200delinsACATCT
NM_001142772.1:c.4373+3195_4373+3200delinsACATCT	NP_001136244.1:n.4373+3195_4373+3200delinsACATCT
NM_001142773.1:c.5716_5721delinsACATCT	NP_001136245.1:p.Thr1906=
NM_033056.3:c.5785_5790delinsACATCT	NP_149045.3:p.Thr1929=
NM_001142769.2:c.4409+3195_4409+3200delinsACATCT	NP_001136241.1:n.4409+3195_4409+3200delinsACATCT
NM_001142770.2:c.4373+3195_4373+3200delinsACATCT	NP_001136242.1:n.4373+3195_4373+3200delinsACATCT
NM_001354404.1:c.5719_5724delinsACATCT	NP_001341333.1:p.Thr1907=
NM_001354411.1:c.4388+5452_4388+5457delinsACATCT	NP_001341340.1:n.4388+5452_4388+5457delinsACATCT
NM_001354420.1:c.4367+5452_4367+5457delinsACATCT	NP_001341349.1:n.4367+5452_4367+5457delinsACATCT
NM_001354429.1:c.4368-3928_4368-3923delinsACATCT	NP_001341358.1:n.4368-3928_4368-3923delinsACATCT
XM_017016573.2:c.4388+3195_4388+3200delinsACATCT	XP_016872062.1:n.4388+3195_4388+3200delinsACATCT
XR_001747192.2:n.6798_6803delinsACATCT
XR_001747193.2:n.6789_6794delinsACATCT
NM_001142763.2:c.5806_5811delinsACATCT	NP_001136235.1:p.Thr1936=
NM_001142764.2:c.5791_5796delinsACATCT	NP_001136236.1:p.Thr1931=
NM_001142765.2:c.5578_5583delinsACATCT	NP_001136237.1:p.Thr1860=
NM_001142766.2:c.5776_5781delinsACATCT	NP_001136238.1:p.Thr1926=
NM_001142768.2:c.5725_5730delinsACATCT	NP_001136240.1:p.Thr1909=
NM_001142769.3:c.4409+3195_4409+3200delinsACATCT	NP_001136241.1:n.4409+3195_4409+3200delinsACATCT
NM_001142770.3:c.4373+3195_4373+3200delinsACATCT	NP_001136242.1:n.4373+3195_4373+3200delinsACATCT
NM_001142771.2:c.4388+3195_4388+3200delinsACATCT	NP_001136243.1:n.4388+3195_4388+3200delinsACATCT
NM_001142772.2:c.4373+3195_4373+3200delinsACATCT	NP_001136244.1:n.4373+3195_4373+3200delinsACATCT
NM_001142773.2:c.5716_5721delinsACATCT	NP_001136245.1:p.Thr1906=
NM_001354411.2:c.4388+5452_4388+5457delinsACATCT	NP_001341340.1:n.4388+5452_4388+5457delinsACATCT
NM_001354420.2:c.4367+5452_4367+5457delinsACATCT	NP_001341349.1:n.4367+5452_4367+5457delinsACATCT
NM_001354429.2:c.4368-3928_4368-3923delinsACATCT	NP_001341358.1:n.4368-3928_4368-3923delinsACATCT
NM_033056.4:c.5785_5790delinsACATCT MANE Plus Clinical	NP_149045.3:p.Thr1929=
NM_001142767.2:c.5665_5670delinsACATCT	NP_001136239.1:p.Thr1889=
NM_001354404.2:c.5719_5724delinsACATCT	NP_001341333.1:p.Thr1907=
NM_001384140.1:c.4368-1711_4368-1706delinsACATCT MANE Select	NP_001371069.1:n.4368-1711_4368-1706delinsACATCT