Canonical Allele Identifier: CA593782995

Gene: PCDH15

Linked Data

• ClinVar Variation Id: 549865
• ClinVar RCV Id: RCV000664440
• dbSNP Id: rs1272584101
• gnomAD v2: 10-55568901-T-TCTC
• gnomAD v3: 10-53809141-T-TCTC
• gnomAD v4: 10-53809141-T-TCTC
• MyVariant Identifiers: chr10:g.55568904_55568905insCTC (hg19) ; chr10:g.55568901_55568902insCTC (hg19) ; chr10:g.53809151_53809153dupCTC (hg38) ; chr10:g.53809141_53809142insCTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53809151_53809153dup , CM000672.2:g.53809151_53809153dup	GRCh38
NC_000010.10:g.55568911_55568913dup , CM000672.1:g.55568911_55568913dup	GRCh37
NC_000010.9:g.55238917_55238919dup	NCBI36
NG_009191.2:g.997148_997150dup
NG_009191.3:g.1825039_1825041dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000613657.6:c.4921_4923dup	ENSP00000482794.1:p.Glu1641_Ser1642insGlu
ENST00000395445.6:c.4900_4902dup	ENSP00000378832.2:p.Glu1634_Ser1635insGlu
ENST00000613657.5:c.4921_4923dup	ENSP00000482794.1:p.Glu1641_Ser1642insGlu
ENST00000642496.1:c.3530+1412_3530+1414dup
ENST00000644397.2:c.4671+1412_4671+1414dup MANE Select	ENSP00000495195.1:n.4671+1412_4671+1414dup
ENST00000373965.6:c.4482+1412_4482+1414dup	ENSP00000363076.3:n.4482+1412_4482+1414dup
ENST00000395438.5:c.*336_*338dup	ENSP00000378826.2:n.*336_*338dup
ENST00000395440.5:c.1708_1710dup	ENSP00000378827.1:p.Glu570_Ser571insGlu
ENST00000395442.5:c.1501_1503dup	ENSP00000378829.1:p.Glu501_Ser502insGlu
ENST00000395445.5:c.4900_4902dup	ENSP00000378832.2:p.Glu1634_Ser1635insGlu
ENST00000395446.5:c.2494_2496dup	ENSP00000378833.1:p.Glu832_Ser833insGlu
ENST00000409834.5:c.*336_*338dup	ENSP00000386693.1:n.*336_*338dup
ENST00000414367.5:c.*959_*961dup	ENSP00000412531.1:n.*959_*961dup
ENST00000414778.5:c.4479+1412_4479+1414dup	ENSP00000410304.2:n.4479+1412_4479+1414dup
ENST00000476074.5:n.609+1412_609+1414dup
ENST00000495484.5:c.699+1412_699+1414dup	ENSP00000480780.1:n.699+1412_699+1414dup
ENST00000612394.4:c.4918_4920dup	ENSP00000482921.1:p.Glu1640_Ser1641insGlu
ENST00000613657.4:c.4921_4923dup	ENSP00000482794.1:p.Glu1641_Ser1642insGlu
ENST00000614895.4:c.4494+1412_4494+1414dup	ENSP00000478512.1:n.4494+1412_4494+1414dup
ENST00000615043.1:c.521_523dup
ENST00000616114.4:c.4476+1412_4476+1414dup	ENSP00000483745.1:n.4476+1412_4476+1414dup
ENST00000617271.4:c.*336_*338dup	ENSP00000478076.1:n.*336_*338dup
ENST00000618301.4:c.831+1412_831+1414dup	ENSP00000482780.1:n.831+1412_831+1414dup
ENST00000621708.4:c.4497+1412_4497+1414dup	ENSP00000484454.1:n.4497+1412_4497+1414dup
NM_001142769.1:c.4921_4923dup	NP_001136241.1:p.Glu1641_Ser1642insGlu
NM_001142770.1:c.*336_*338dup	NP_001136242.1:n.*336_*338dup
NM_001142771.1:c.4497+1412_4497+1414dup	NP_001136243.1:n.4497+1412_4497+1414dup
NM_001142772.1:c.4482+1412_4482+1414dup	NP_001136244.1:n.4482+1412_4482+1414dup
NM_001142769.2:c.4921_4923dup	NP_001136241.1:p.Glu1641_Ser1642insGlu
NM_001142770.2:c.*336_*338dup	NP_001136242.1:n.*336_*338dup
NM_001354411.1:c.4900_4902dup	NP_001341340.1:p.Glu1634_Ser1635insGlu
NM_001354420.1:c.4476+1412_4476+1414dup	NP_001341349.1:n.4476+1412_4476+1414dup
NM_001354429.1:c.4605+1412_4605+1414dup	NP_001341358.1:n.4605+1412_4605+1414dup
XM_017016573.2:c.4900_4902dup	XP_016872062.1:p.Glu1634_Ser1635insGlu
XR_001747192.2:n.10963+1412_10963+1414dup
XR_001747193.2:n.10954+1412_10954+1414dup
NM_001142769.3:c.4921_4923dup	NP_001136241.1:p.Glu1641_Ser1642insGlu
NM_001142770.3:c.*336_*338dup	NP_001136242.1:n.*336_*338dup
NM_001142771.2:c.4497+1412_4497+1414dup	NP_001136243.1:n.4497+1412_4497+1414dup
NM_001142772.2:c.4482+1412_4482+1414dup	NP_001136244.1:n.4482+1412_4482+1414dup
NM_001354411.2:c.4900_4902dup	NP_001341340.1:p.Glu1634_Ser1635insGlu
NM_001354420.2:c.4476+1412_4476+1414dup	NP_001341349.1:n.4476+1412_4476+1414dup
NM_001354429.2:c.4605+1412_4605+1414dup	NP_001341358.1:n.4605+1412_4605+1414dup
NM_001384140.1:c.4671+1412_4671+1414dup MANE Select	NP_001371069.1:n.4671+1412_4671+1414dup