Canonical Allele Identifier: CA2609212054
Gene: PCDH15 HGNC NCBI

Linked Data

gnomAD v4: 10-53821953-TTGTTACTTC-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53821956_53821964del , CM000672.2:g.53821956_53821964del GRCh38
NC_000010.10:g.55581716_55581724del , CM000672.1:g.55581716_55581724del GRCh37
NC_000010.9:g.55251722_55251730del NCBI36
NG_009191.2:g.984330_984338del
NG_009191.3:g.1812221_1812229del

Transcript Alleles

HGVS Amino-acid Change
ENST00000613657.6:c.4409+3174_4409+3182del ENSP00000482794.1:n.4409+3174_4409+3182del
ENST00000320301.11:c.5764_5772del MANE Plus Clinical ENSP00000322604.6:p.Glu1922_Thr1924del
ENST00000395445.6:c.4388+5431_4388+5439del ENSP00000378832.2:n.4388+5431_4388+5439del
ENST00000613657.5:c.4409+3174_4409+3182del ENSP00000482794.1:n.4409+3174_4409+3182del
ENST00000642496.1:c.3227-1732_3227-1724del
ENST00000644397.2:c.4368-1732_4368-1724del MANE Select ENSP00000495195.1:n.4368-1732_4368-1724del
ENST00000320301.10:c.5764_5772del ENSP00000322604.6:p.Glu1922_Thr1924del
ENST00000361849.7:c.5770_5778del ENSP00000354950.3:p.Glu1924_Thr1926del
ENST00000373956.7:c.*3719_*3727del ENSP00000363067.4:n.*3719_*3727del
ENST00000373957.7:c.5785_5793del ENSP00000363068.4:p.Glu1929_Thr1931del
ENST00000373965.6:c.4373+3174_4373+3182del ENSP00000363076.3:n.4373+3174_4373+3182del
ENST00000395430.5:c.5755_5763del ENSP00000378818.1:p.Glu1919_Thr1921del
ENST00000395432.6:c.5644_5652del ENSP00000378820.2:p.Glu1882_Thr1884del
ENST00000395433.5:c.5695_5703del ENSP00000378821.1:p.Glu1899_Thr1901del
ENST00000395438.5:c.4371+5430_4371+5438del ENSP00000378826.2:n.4371+5430_4371+5438del
ENST00000395440.5:c.1306-12416_1306-12408del ENSP00000378827.1:n.1306-12416_1306-12408del
ENST00000395442.5:c.1099-12416_1099-12408del ENSP00000378829.1:n.1099-12416_1099-12408del
ENST00000395445.5:c.4388+5431_4388+5439del ENSP00000378832.2:n.4388+5431_4388+5439del
ENST00000395446.5:c.2092-12416_2092-12408del ENSP00000378833.1:n.2092-12416_2092-12408del
ENST00000409834.5:c.3206+3174_3206+3182del ENSP00000386693.1:n.3206+3174_3206+3182del
ENST00000414367.5:c.*447+5431_*447+5439del ENSP00000412531.1:n.*447+5431_*447+5439del
ENST00000414778.5:c.4370+5431_4370+5439del ENSP00000410304.2:n.4370+5431_4370+5439del
ENST00000437009.5:c.5557_5565del ENSP00000412628.2:p.Glu1853_Thr1855del
ENST00000448885.5:c.*3725_*3733del ENSP00000412320.1:n.*3725_*3733del
ENST00000463095.2:n.2783_2791del
ENST00000495484.5:c.462-3949_462-3941del ENSP00000480780.1:n.462-3949_462-3941del
ENST00000612394.4:c.4406+5431_4406+5439del ENSP00000482921.1:n.4406+5431_4406+5439del
ENST00000613657.4:c.4409+3174_4409+3182del ENSP00000482794.1:n.4409+3174_4409+3182del
ENST00000614895.4:c.4385+5431_4385+5439del ENSP00000478512.1:n.4385+5431_4385+5439del
ENST00000616114.4:c.4367+5431_4367+5439del ENSP00000483745.1:n.4367+5431_4367+5439del
ENST00000617051.4:c.5791_5799del ENSP00000484703.1:p.Glu1931_Thr1933del
ENST00000617271.4:c.4373+3174_4373+3182del ENSP00000478076.1:n.4373+3174_4373+3182del
ENST00000618301.4:c.594-3949_594-3941del ENSP00000482780.1:n.594-3949_594-3941del
ENST00000621708.4:c.4388+3174_4388+3182del ENSP00000484454.1:n.4388+3174_4388+3182del
ENST00000622048.4:c.5563_5571del ENSP00000482329.1:p.Glu1855_Thr1857del
NM_001142763.1:c.5785_5793del NP_001136235.1:p.Glu1929_Thr1931del
NM_001142764.1:c.5770_5778del NP_001136236.1:p.Glu1924_Thr1926del
NM_001142765.1:c.5557_5565del NP_001136237.1:p.Glu1853_Thr1855del
NM_001142766.1:c.5755_5763del NP_001136238.1:p.Glu1919_Thr1921del
NM_001142767.1:c.5644_5652del NP_001136239.1:p.Glu1882_Thr1884del
NM_001142768.1:c.5704_5712del NP_001136240.1:p.Glu1902_Thr1904del
NM_001142769.1:c.4409+3174_4409+3182del NP_001136241.1:n.4409+3174_4409+3182del
NM_001142770.1:c.4373+3174_4373+3182del NP_001136242.1:n.4373+3174_4373+3182del
NM_001142771.1:c.4388+3174_4388+3182del NP_001136243.1:n.4388+3174_4388+3182del
NM_001142772.1:c.4373+3174_4373+3182del NP_001136244.1:n.4373+3174_4373+3182del
NM_001142773.1:c.5695_5703del NP_001136245.1:p.Glu1899_Thr1901del
NM_033056.3:c.5764_5772del NP_149045.3:p.Glu1922_Thr1924del
NM_001142769.2:c.4409+3174_4409+3182del NP_001136241.1:n.4409+3174_4409+3182del
NM_001142770.2:c.4373+3174_4373+3182del NP_001136242.1:n.4373+3174_4373+3182del
NM_001354404.1:c.5698_5706del NP_001341333.1:p.Glu1900_Thr1902del
NM_001354411.1:c.4388+5431_4388+5439del NP_001341340.1:n.4388+5431_4388+5439del
NM_001354420.1:c.4367+5431_4367+5439del NP_001341349.1:n.4367+5431_4367+5439del
NM_001354429.1:c.4368-3949_4368-3941del NP_001341358.1:n.4368-3949_4368-3941del
XM_017016573.2:c.4388+3174_4388+3182del XP_016872062.1:n.4388+3174_4388+3182del
XR_001747192.2:n.6777_6785del
XR_001747193.2:n.6768_6776del
NM_001142763.2:c.5785_5793del NP_001136235.1:p.Glu1929_Thr1931del
NM_001142764.2:c.5770_5778del NP_001136236.1:p.Glu1924_Thr1926del
NM_001142765.2:c.5557_5565del NP_001136237.1:p.Glu1853_Thr1855del
NM_001142766.2:c.5755_5763del NP_001136238.1:p.Glu1919_Thr1921del
NM_001142768.2:c.5704_5712del NP_001136240.1:p.Glu1902_Thr1904del
NM_001142769.3:c.4409+3174_4409+3182del NP_001136241.1:n.4409+3174_4409+3182del
NM_001142770.3:c.4373+3174_4373+3182del NP_001136242.1:n.4373+3174_4373+3182del
NM_001142771.2:c.4388+3174_4388+3182del NP_001136243.1:n.4388+3174_4388+3182del
NM_001142772.2:c.4373+3174_4373+3182del NP_001136244.1:n.4373+3174_4373+3182del
NM_001142773.2:c.5695_5703del NP_001136245.1:p.Glu1899_Thr1901del
NM_001354411.2:c.4388+5431_4388+5439del NP_001341340.1:n.4388+5431_4388+5439del
NM_001354420.2:c.4367+5431_4367+5439del NP_001341349.1:n.4367+5431_4367+5439del
NM_001354429.2:c.4368-3949_4368-3941del NP_001341358.1:n.4368-3949_4368-3941del
NM_033056.4:c.5764_5772del MANE Plus Clinical NP_149045.3:p.Glu1922_Thr1924del
NM_001142767.2:c.5644_5652del NP_001136239.1:p.Glu1882_Thr1884del
NM_001354404.2:c.5698_5706del NP_001341333.1:p.Glu1900_Thr1902del
NM_001384140.1:c.4368-1732_4368-1724del MANE Select NP_001371069.1:n.4368-1732_4368-1724del
Search 100 bp 5'
Search 100 bp 3'