Canonical Allele Identifier: CA2609212053

Gene: PCDH15

Linked Data

• gnomAD v4: 10-53821938-ATGTGATTTCCATATT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53821942_53821956del , CM000672.2:g.53821942_53821956del	GRCh38
NC_000010.10:g.55581702_55581716del , CM000672.1:g.55581702_55581716del	GRCh37
NC_000010.9:g.55251708_55251722del	NCBI36
NG_009191.2:g.984339_984353del
NG_009191.3:g.1812230_1812244del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613657.6:c.4409+3183_4409+3197del	ENSP00000482794.1:n.4409+3183_4409+3197del
ENST00000320301.11:c.5773_5787del MANE Plus Clinical	ENSP00000322604.6:p.Asn1925_Thr1929del
ENST00000395445.6:c.4388+5440_4388+5454del	ENSP00000378832.2:n.4388+5440_4388+5454del
ENST00000613657.5:c.4409+3183_4409+3197del	ENSP00000482794.1:n.4409+3183_4409+3197del
ENST00000642496.1:c.3227-1723_3227-1709del
ENST00000644397.2:c.4368-1723_4368-1709del MANE Select	ENSP00000495195.1:n.4368-1723_4368-1709del
ENST00000320301.10:c.5773_5787del	ENSP00000322604.6:p.Asn1925_Thr1929del
ENST00000361849.7:c.5779_5793del	ENSP00000354950.3:p.Asn1927_Thr1931del
ENST00000373956.7:c.*3728_*3742del	ENSP00000363067.4:n.*3728_*3742del
ENST00000373957.7:c.5794_5808del	ENSP00000363068.4:p.Asn1932_Thr1936del
ENST00000373965.6:c.4373+3183_4373+3197del	ENSP00000363076.3:n.4373+3183_4373+3197del
ENST00000395430.5:c.5764_5778del	ENSP00000378818.1:p.Asn1922_Thr1926del
ENST00000395432.6:c.5653_5667del	ENSP00000378820.2:p.Asn1885_Thr1889del
ENST00000395433.5:c.5704_5718del	ENSP00000378821.1:p.Asn1902_Thr1906del
ENST00000395438.5:c.4371+5439_4371+5453del	ENSP00000378826.2:n.4371+5439_4371+5453del
ENST00000395440.5:c.1306-12407_1306-12393del	ENSP00000378827.1:n.1306-12407_1306-12393del
ENST00000395442.5:c.1099-12407_1099-12393del	ENSP00000378829.1:n.1099-12407_1099-12393del
ENST00000395445.5:c.4388+5440_4388+5454del	ENSP00000378832.2:n.4388+5440_4388+5454del
ENST00000395446.5:c.2092-12407_2092-12393del	ENSP00000378833.1:n.2092-12407_2092-12393del
ENST00000409834.5:c.3206+3183_3206+3197del	ENSP00000386693.1:n.3206+3183_3206+3197del
ENST00000414367.5:c.*447+5440_*447+5454del	ENSP00000412531.1:n.*447+5440_*447+5454del
ENST00000414778.5:c.4370+5440_4370+5454del	ENSP00000410304.2:n.4370+5440_4370+5454del
ENST00000437009.5:c.5566_5580del	ENSP00000412628.2:p.Asn1856_Thr1860del
ENST00000448885.5:c.*3734_*3748del	ENSP00000412320.1:n.*3734_*3748del
ENST00000463095.2:n.2792_2806del
ENST00000495484.5:c.462-3940_462-3926del	ENSP00000480780.1:n.462-3940_462-3926del
ENST00000612394.4:c.4406+5440_4406+5454del	ENSP00000482921.1:n.4406+5440_4406+5454del
ENST00000613657.4:c.4409+3183_4409+3197del	ENSP00000482794.1:n.4409+3183_4409+3197del
ENST00000614895.4:c.4385+5440_4385+5454del	ENSP00000478512.1:n.4385+5440_4385+5454del
ENST00000616114.4:c.4367+5440_4367+5454del	ENSP00000483745.1:n.4367+5440_4367+5454del
ENST00000617051.4:c.5800_5814del	ENSP00000484703.1:p.Asn1934_Thr1938del
ENST00000617271.4:c.4373+3183_4373+3197del	ENSP00000478076.1:n.4373+3183_4373+3197del
ENST00000618301.4:c.594-3940_594-3926del	ENSP00000482780.1:n.594-3940_594-3926del
ENST00000621708.4:c.4388+3183_4388+3197del	ENSP00000484454.1:n.4388+3183_4388+3197del
ENST00000622048.4:c.5572_5586del	ENSP00000482329.1:p.Asn1858_Thr1862del
NM_001142763.1:c.5794_5808del	NP_001136235.1:p.Asn1932_Thr1936del
NM_001142764.1:c.5779_5793del	NP_001136236.1:p.Asn1927_Thr1931del
NM_001142765.1:c.5566_5580del	NP_001136237.1:p.Asn1856_Thr1860del
NM_001142766.1:c.5764_5778del	NP_001136238.1:p.Asn1922_Thr1926del
NM_001142767.1:c.5653_5667del	NP_001136239.1:p.Asn1885_Thr1889del
NM_001142768.1:c.5713_5727del	NP_001136240.1:p.Asn1905_Thr1909del
NM_001142769.1:c.4409+3183_4409+3197del	NP_001136241.1:n.4409+3183_4409+3197del
NM_001142770.1:c.4373+3183_4373+3197del	NP_001136242.1:n.4373+3183_4373+3197del
NM_001142771.1:c.4388+3183_4388+3197del	NP_001136243.1:n.4388+3183_4388+3197del
NM_001142772.1:c.4373+3183_4373+3197del	NP_001136244.1:n.4373+3183_4373+3197del
NM_001142773.1:c.5704_5718del	NP_001136245.1:p.Asn1902_Thr1906del
NM_033056.3:c.5773_5787del	NP_149045.3:p.Asn1925_Thr1929del
NM_001142769.2:c.4409+3183_4409+3197del	NP_001136241.1:n.4409+3183_4409+3197del
NM_001142770.2:c.4373+3183_4373+3197del	NP_001136242.1:n.4373+3183_4373+3197del
NM_001354404.1:c.5707_5721del	NP_001341333.1:p.Asn1903_Thr1907del
NM_001354411.1:c.4388+5440_4388+5454del	NP_001341340.1:n.4388+5440_4388+5454del
NM_001354420.1:c.4367+5440_4367+5454del	NP_001341349.1:n.4367+5440_4367+5454del
NM_001354429.1:c.4368-3940_4368-3926del	NP_001341358.1:n.4368-3940_4368-3926del
XM_017016573.2:c.4388+3183_4388+3197del	XP_016872062.1:n.4388+3183_4388+3197del
XR_001747192.2:n.6786_6800del
XR_001747193.2:n.6777_6791del
NM_001142763.2:c.5794_5808del	NP_001136235.1:p.Asn1932_Thr1936del
NM_001142764.2:c.5779_5793del	NP_001136236.1:p.Asn1927_Thr1931del
NM_001142765.2:c.5566_5580del	NP_001136237.1:p.Asn1856_Thr1860del
NM_001142766.2:c.5764_5778del	NP_001136238.1:p.Asn1922_Thr1926del
NM_001142768.2:c.5713_5727del	NP_001136240.1:p.Asn1905_Thr1909del
NM_001142769.3:c.4409+3183_4409+3197del	NP_001136241.1:n.4409+3183_4409+3197del
NM_001142770.3:c.4373+3183_4373+3197del	NP_001136242.1:n.4373+3183_4373+3197del
NM_001142771.2:c.4388+3183_4388+3197del	NP_001136243.1:n.4388+3183_4388+3197del
NM_001142772.2:c.4373+3183_4373+3197del	NP_001136244.1:n.4373+3183_4373+3197del
NM_001142773.2:c.5704_5718del	NP_001136245.1:p.Asn1902_Thr1906del
NM_001354411.2:c.4388+5440_4388+5454del	NP_001341340.1:n.4388+5440_4388+5454del
NM_001354420.2:c.4367+5440_4367+5454del	NP_001341349.1:n.4367+5440_4367+5454del
NM_001354429.2:c.4368-3940_4368-3926del	NP_001341358.1:n.4368-3940_4368-3926del
NM_033056.4:c.5773_5787del MANE Plus Clinical	NP_149045.3:p.Asn1925_Thr1929del
NM_001142767.2:c.5653_5667del	NP_001136239.1:p.Asn1885_Thr1889del
NM_001354404.2:c.5707_5721del	NP_001341333.1:p.Asn1903_Thr1907del
NM_001384140.1:c.4368-1723_4368-1709del MANE Select	NP_001371069.1:n.4368-1723_4368-1709del