Canonical Allele Identifier: CA2573145191

Gene: PCDH15

Linked Data

• ClinVar Variation Id: 1628871
• ClinVar RCV Id: RCV002116360
• dbSNP Id: rs2132482863
• gnomAD v4: 10-53822030-A-ATGTT

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53822031_53822034dup , CM000672.2:g.53822031_53822034dup	GRCh38
NC_000010.10:g.55581791_55581794dup , CM000672.1:g.55581791_55581794dup	GRCh37
NC_000010.9:g.55251797_55251800dup	NCBI36
NG_009191.2:g.984258_984261dup
NG_009191.3:g.1812149_1812152dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000613657.6:c.4409+3102_4409+3105dup	ENSP00000482794.1:n.4409+3102_4409+3105du...
ENST00000320301.11:c.5692_5695dup MANE Plus Clinical	ENSP00000322604.6:p.Met1899LysfsTer?
ENST00000395445.6:c.4388+5359_4388+5362dup	ENSP00000378832.2:n.4388+5359_4388+5362du...
ENST00000613657.5:c.4409+3102_4409+3105dup	ENSP00000482794.1:n.4409+3102_4409+3105du...
ENST00000642496.1:c.3227-1804_3227-1801dup
ENST00000644397.2:c.4368-1804_4368-1801dup MANE Select	ENSP00000495195.1:n.4368-1804_4368-1801du...
ENST00000320301.10:c.5692_5695dup	ENSP00000322604.6:p.Met1899LysfsTer?
ENST00000361849.7:c.5698_5701dup	ENSP00000354950.3:p.Met1901LysfsTer?
ENST00000373956.7:c.*3647_*3650dup	ENSP00000363067.4:n.*3647_*3650dup
ENST00000373957.7:c.5713_5716dup	ENSP00000363068.4:p.Met1906LysfsTer?
ENST00000373965.6:c.4373+3102_4373+3105dup	ENSP00000363076.3:n.4373+3102_4373+3105du...
ENST00000395430.5:c.5683_5686dup	ENSP00000378818.1:p.Met1896LysfsTer?
ENST00000395432.6:c.5572_5575dup	ENSP00000378820.2:p.Met1859LysfsTer?
ENST00000395433.5:c.5623_5626dup	ENSP00000378821.1:p.Met1876LysfsTer?
ENST00000395438.5:c.4371+5358_4371+5361dup	ENSP00000378826.2:n.4371+5358_4371+5361du...
ENST00000395440.5:c.1306-12488_1306-12485dup	ENSP00000378827.1:n.1306-12488_1306-12485...
ENST00000395442.5:c.1099-12488_1099-12485dup	ENSP00000378829.1:n.1099-12488_1099-12485...
ENST00000395445.5:c.4388+5359_4388+5362dup	ENSP00000378832.2:n.4388+5359_4388+5362du...
ENST00000395446.5:c.2092-12488_2092-12485dup	ENSP00000378833.1:n.2092-12488_2092-12485...
ENST00000409834.5:c.3206+3102_3206+3105dup	ENSP00000386693.1:n.3206+3102_3206+3105du...
ENST00000414367.5:c.*447+5359_*447+5362dup	ENSP00000412531.1:n.*447+5359_*447+5362du...
ENST00000414778.5:c.4370+5359_4370+5362dup	ENSP00000410304.2:n.4370+5359_4370+5362du...
ENST00000437009.5:c.5485_5488dup	ENSP00000412628.2:p.Met1830LysfsTer?
ENST00000448885.5:c.*3653_*3656dup	ENSP00000412320.1:n.*3653_*3656dup
ENST00000463095.2:n.2711_2714dup
ENST00000495484.5:c.462-4021_462-4018dup	ENSP00000480780.1:n.462-4021_462-4018dup
ENST00000612394.4:c.4406+5359_4406+5362dup	ENSP00000482921.1:n.4406+5359_4406+5362du...
ENST00000613657.4:c.4409+3102_4409+3105dup	ENSP00000482794.1:n.4409+3102_4409+3105du...
ENST00000614895.4:c.4385+5359_4385+5362dup	ENSP00000478512.1:n.4385+5359_4385+5362du...
ENST00000616114.4:c.4367+5359_4367+5362dup	ENSP00000483745.1:n.4367+5359_4367+5362du...
ENST00000617051.4:c.5719_5722dup	ENSP00000484703.1:p.Met1908LysfsTer?
ENST00000617271.4:c.4373+3102_4373+3105dup	ENSP00000478076.1:n.4373+3102_4373+3105du...
ENST00000618301.4:c.594-4021_594-4018dup	ENSP00000482780.1:n.594-4021_594-4018dup
ENST00000621708.4:c.4388+3102_4388+3105dup	ENSP00000484454.1:n.4388+3102_4388+3105du...
ENST00000622048.4:c.5491_5494dup	ENSP00000482329.1:p.Met1832LysfsTer?
NM_001142763.1:c.5713_5716dup	NP_001136235.1:p.Met1906LysfsTer?
NM_001142764.1:c.5698_5701dup	NP_001136236.1:p.Met1901LysfsTer?
NM_001142765.1:c.5485_5488dup	NP_001136237.1:p.Met1830LysfsTer?
NM_001142766.1:c.5683_5686dup	NP_001136238.1:p.Met1896LysfsTer?
NM_001142767.1:c.5572_5575dup	NP_001136239.1:p.Met1859LysfsTer?
NM_001142768.1:c.5632_5635dup	NP_001136240.1:p.Met1879LysfsTer?
NM_001142769.1:c.4409+3102_4409+3105dup	NP_001136241.1:n.4409+3102_4409+3105dup
NM_001142770.1:c.4373+3102_4373+3105dup	NP_001136242.1:n.4373+3102_4373+3105dup
NM_001142771.1:c.4388+3102_4388+3105dup	NP_001136243.1:n.4388+3102_4388+3105dup
NM_001142772.1:c.4373+3102_4373+3105dup	NP_001136244.1:n.4373+3102_4373+3105dup
NM_001142773.1:c.5623_5626dup	NP_001136245.1:p.Met1876LysfsTer?
NM_033056.3:c.5692_5695dup	NP_149045.3:p.Met1899LysfsTer?
NM_001142769.2:c.4409+3102_4409+3105dup	NP_001136241.1:n.4409+3102_4409+3105dup
NM_001142770.2:c.4373+3102_4373+3105dup	NP_001136242.1:n.4373+3102_4373+3105dup
NM_001354404.1:c.5626_5629dup	NP_001341333.1:p.Met1877LysfsTer?
NM_001354411.1:c.4388+5359_4388+5362dup	NP_001341340.1:n.4388+5359_4388+5362dup
NM_001354420.1:c.4367+5359_4367+5362dup	NP_001341349.1:n.4367+5359_4367+5362dup
NM_001354429.1:c.4368-4021_4368-4018dup	NP_001341358.1:n.4368-4021_4368-4018dup
XM_017016573.2:c.4388+3102_4388+3105dup	XP_016872062.1:n.4388+3102_4388+3105dup
XR_001747192.2:n.6705_6708dup
XR_001747193.2:n.6696_6699dup
NM_001142763.2:c.5713_5716dup	NP_001136235.1:p.Met1906LysfsTer?
NM_001142764.2:c.5698_5701dup	NP_001136236.1:p.Met1901LysfsTer?
NM_001142765.2:c.5485_5488dup	NP_001136237.1:p.Met1830LysfsTer?
NM_001142766.2:c.5683_5686dup	NP_001136238.1:p.Met1896LysfsTer?
NM_001142768.2:c.5632_5635dup	NP_001136240.1:p.Met1879LysfsTer?
NM_001142769.3:c.4409+3102_4409+3105dup	NP_001136241.1:n.4409+3102_4409+3105dup
NM_001142770.3:c.4373+3102_4373+3105dup	NP_001136242.1:n.4373+3102_4373+3105dup
NM_001142771.2:c.4388+3102_4388+3105dup	NP_001136243.1:n.4388+3102_4388+3105dup
NM_001142772.2:c.4373+3102_4373+3105dup	NP_001136244.1:n.4373+3102_4373+3105dup
NM_001142773.2:c.5623_5626dup	NP_001136245.1:p.Met1876LysfsTer?
NM_001354411.2:c.4388+5359_4388+5362dup	NP_001341340.1:n.4388+5359_4388+5362dup
NM_001354420.2:c.4367+5359_4367+5362dup	NP_001341349.1:n.4367+5359_4367+5362dup
NM_001354429.2:c.4368-4021_4368-4018dup	NP_001341358.1:n.4368-4021_4368-4018dup
NM_033056.4:c.5692_5695dup MANE Plus Clinical	NP_149045.3:p.Met1899LysfsTer?
NM_001142767.2:c.5572_5575dup	NP_001136239.1:p.Met1859LysfsTer?
NM_001354404.2:c.5626_5629dup	NP_001341333.1:p.Met1877LysfsTer?
NM_001384140.1:c.4368-1804_4368-1801dup MANE Select	NP_001371069.1:n.4368-1804_4368-1801dup