Canonical Allele Identifier: CA593782990

Gene: PCDH15

Linked Data

• dbSNP Id: rs1176896824
• gnomAD v2: 10-55568649-C-CCT
• gnomAD v4: 10-53808889-C-CCT
• MyVariant Identifiers: chr10:g.55568649_55568650insCT (hg19) ; chr10:g.53808889_53808890insCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53808892_53808893dup , CM000672.2:g.53808892_53808893dup	GRCh38
NC_000010.10:g.55568652_55568653dup , CM000672.1:g.55568652_55568653dup	GRCh37
NC_000010.9:g.55238658_55238659dup	NCBI36
NG_009191.2:g.997401_997402dup
NG_009191.3:g.1825292_1825293dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613657.6:c.5174_5175dup	ENSP00000482794.1:p.Gly1726ArgfsTer?
ENST00000395445.6:c.5153_5154dup	ENSP00000378832.2:p.Gly1719ArgfsTer?
ENST00000613657.5:c.5174_5175dup	ENSP00000482794.1:p.Gly1726ArgfsTer?
ENST00000642496.1:c.3530+1665_3530+1666dup
ENST00000644397.2:c.4671+1665_4671+1666dup MANE Select	ENSP00000495195.1:n.4671+1665_4671+1666dup
ENST00000373965.6:c.4482+1665_4482+1666dup	ENSP00000363076.3:n.4482+1665_4482+1666dup
ENST00000395438.5:c.*589_*590dup	ENSP00000378826.2:n.*589_*590dup
ENST00000395440.5:c.1961_1962dup	ENSP00000378827.1:p.Gly655ArgfsTer?
ENST00000395442.5:c.1754_1755dup	ENSP00000378829.1:p.Gly586ArgfsTer?
ENST00000395445.5:c.5153_5154dup	ENSP00000378832.2:p.Gly1719ArgfsTer?
ENST00000395446.5:c.2747_2748dup	ENSP00000378833.1:p.Gly917ArgfsTer?
ENST00000409834.5:c.*589_*590dup	ENSP00000386693.1:n.*589_*590dup
ENST00000414367.5:c.*1212_*1213dup	ENSP00000412531.1:n.*1212_*1213dup
ENST00000414778.5:c.4479+1665_4479+1666dup	ENSP00000410304.2:n.4479+1665_4479+1666dup
ENST00000476074.5:n.609+1665_609+1666dup
ENST00000495484.5:c.699+1665_699+1666dup	ENSP00000480780.1:n.699+1665_699+1666dup
ENST00000612394.4:c.5171_5172dup	ENSP00000482921.1:p.Gly1725ArgfsTer?
ENST00000613657.4:c.5174_5175dup	ENSP00000482794.1:p.Gly1726ArgfsTer?
ENST00000614895.4:c.4494+1665_4494+1666dup	ENSP00000478512.1:n.4494+1665_4494+1666dup
ENST00000615043.1:c.774_775dup
ENST00000616114.4:c.4476+1665_4476+1666dup	ENSP00000483745.1:n.4476+1665_4476+1666dup
ENST00000617271.4:c.*589_*590dup	ENSP00000478076.1:n.*589_*590dup
ENST00000618301.4:c.831+1665_831+1666dup	ENSP00000482780.1:n.831+1665_831+1666dup
ENST00000621708.4:c.4497+1665_4497+1666dup	ENSP00000484454.1:n.4497+1665_4497+1666dup
NM_001142769.1:c.5174_5175dup	NP_001136241.1:p.Gly1726ArgfsTer?
NM_001142770.1:c.*589_*590dup	NP_001136242.1:n.*589_*590dup
NM_001142771.1:c.4497+1665_4497+1666dup	NP_001136243.1:n.4497+1665_4497+1666dup
NM_001142772.1:c.4482+1665_4482+1666dup	NP_001136244.1:n.4482+1665_4482+1666dup
NM_001142769.2:c.5174_5175dup	NP_001136241.1:p.Gly1726ArgfsTer?
NM_001142770.2:c.*589_*590dup	NP_001136242.1:n.*589_*590dup
NM_001354411.1:c.5153_5154dup	NP_001341340.1:p.Gly1719ArgfsTer?
NM_001354420.1:c.4476+1665_4476+1666dup	NP_001341349.1:n.4476+1665_4476+1666dup
NM_001354429.1:c.4605+1665_4605+1666dup	NP_001341358.1:n.4605+1665_4605+1666dup
XM_017016573.2:c.5153_5154dup	XP_016872062.1:p.Gly1719ArgfsTer?
XR_001747192.2:n.10963+1665_10963+1666dup
XR_001747193.2:n.10954+1665_10954+1666dup
NM_001142769.3:c.5174_5175dup	NP_001136241.1:p.Gly1726ArgfsTer?
NM_001142770.3:c.*589_*590dup	NP_001136242.1:n.*589_*590dup
NM_001142771.2:c.4497+1665_4497+1666dup	NP_001136243.1:n.4497+1665_4497+1666dup
NM_001142772.2:c.4482+1665_4482+1666dup	NP_001136244.1:n.4482+1665_4482+1666dup
NM_001354411.2:c.5153_5154dup	NP_001341340.1:p.Gly1719ArgfsTer?
NM_001354420.2:c.4476+1665_4476+1666dup	NP_001341349.1:n.4476+1665_4476+1666dup
NM_001354429.2:c.4605+1665_4605+1666dup	NP_001341358.1:n.4605+1665_4605+1666dup
NM_001384140.1:c.4671+1665_4671+1666dup MANE Select	NP_001371069.1:n.4671+1665_4671+1666dup