Canonical Allele Identifier: CA5504750

Gene: PCDH15

Linked Data

• dbSNP Id: rs755495232
• ExAC: 10:55568815 CCTT / C
• gnomAD v2: 10-55568815-CCTT-C
• gnomAD v3: 10-53809055-CCTT-C
• gnomAD v4: 10-53809055-CCTT-C
• MyVariant Identifiers: chr10:g.55568816_55568818del (hg19) ; chr10:g.53809057_53809059del (hg38) ; chr10:g.53809056_53809058del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53809062_53809064del , CM000672.2:g.53809062_53809064del	GRCh38
NC_000010.10:g.55568822_55568824del , CM000672.1:g.55568822_55568824del	GRCh37
NC_000010.9:g.55238828_55238830del	NCBI36
NG_009191.2:g.997234_997236del
NG_009191.3:g.1825125_1825127del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613657.6:c.5007_5009del	ENSP00000482794.1:p.Arg1670del
ENST00000395445.6:c.4986_4988del	ENSP00000378832.2:p.Arg1663del
ENST00000613657.5:c.5007_5009del	ENSP00000482794.1:p.Arg1670del
ENST00000642496.1:c.3530+1498_3530+1500del
ENST00000644397.2:c.4671+1498_4671+1500del MANE Select	ENSP00000495195.1:n.4671+1498_4671+1500del
ENST00000373965.6:c.4482+1498_4482+1500del	ENSP00000363076.3:n.4482+1498_4482+1500del
ENST00000395438.5:c.*422_*424del	ENSP00000378826.2:n.*422_*424del
ENST00000395440.5:c.1794_1796del	ENSP00000378827.1:p.Arg599del
ENST00000395442.5:c.1587_1589del	ENSP00000378829.1:p.Arg530del
ENST00000395445.5:c.4986_4988del	ENSP00000378832.2:p.Arg1663del
ENST00000395446.5:c.2580_2582del	ENSP00000378833.1:p.Arg861del
ENST00000409834.5:c.*422_*424del	ENSP00000386693.1:n.*422_*424del
ENST00000414367.5:c.*1045_*1047del	ENSP00000412531.1:n.*1045_*1047del
ENST00000414778.5:c.4479+1498_4479+1500del	ENSP00000410304.2:n.4479+1498_4479+1500del
ENST00000476074.5:n.609+1498_609+1500del
ENST00000495484.5:c.699+1498_699+1500del	ENSP00000480780.1:n.699+1498_699+1500del
ENST00000612394.4:c.5004_5006del	ENSP00000482921.1:p.Arg1669del
ENST00000613657.4:c.5007_5009del	ENSP00000482794.1:p.Arg1670del
ENST00000614895.4:c.4494+1498_4494+1500del	ENSP00000478512.1:n.4494+1498_4494+1500del
ENST00000615043.1:c.607_609del
ENST00000616114.4:c.4476+1498_4476+1500del	ENSP00000483745.1:n.4476+1498_4476+1500del
ENST00000617271.4:c.*422_*424del	ENSP00000478076.1:n.*422_*424del
ENST00000618301.4:c.831+1498_831+1500del	ENSP00000482780.1:n.831+1498_831+1500del
ENST00000621708.4:c.4497+1498_4497+1500del	ENSP00000484454.1:n.4497+1498_4497+1500del
NM_001142769.1:c.5007_5009del	NP_001136241.1:p.Arg1670del
NM_001142770.1:c.*422_*424del	NP_001136242.1:n.*422_*424del
NM_001142771.1:c.4497+1498_4497+1500del	NP_001136243.1:n.4497+1498_4497+1500del
NM_001142772.1:c.4482+1498_4482+1500del	NP_001136244.1:n.4482+1498_4482+1500del
NM_001142769.2:c.5007_5009del	NP_001136241.1:p.Arg1670del
NM_001142770.2:c.*422_*424del	NP_001136242.1:n.*422_*424del
NM_001354411.1:c.4986_4988del	NP_001341340.1:p.Arg1663del
NM_001354420.1:c.4476+1498_4476+1500del	NP_001341349.1:n.4476+1498_4476+1500del
NM_001354429.1:c.4605+1498_4605+1500del	NP_001341358.1:n.4605+1498_4605+1500del
XM_017016573.2:c.4986_4988del	XP_016872062.1:p.Arg1663del
XR_001747192.2:n.10963+1498_10963+1500del
XR_001747193.2:n.10954+1498_10954+1500del
NM_001142769.3:c.5007_5009del	NP_001136241.1:p.Arg1670del
NM_001142770.3:c.*422_*424del	NP_001136242.1:n.*422_*424del
NM_001142771.2:c.4497+1498_4497+1500del	NP_001136243.1:n.4497+1498_4497+1500del
NM_001142772.2:c.4482+1498_4482+1500del	NP_001136244.1:n.4482+1498_4482+1500del
NM_001354411.2:c.4986_4988del	NP_001341340.1:p.Arg1663del
NM_001354420.2:c.4476+1498_4476+1500del	NP_001341349.1:n.4476+1498_4476+1500del
NM_001354429.2:c.4605+1498_4605+1500del	NP_001341358.1:n.4605+1498_4605+1500del
NM_001384140.1:c.4671+1498_4671+1500del MANE Select	NP_001371069.1:n.4671+1498_4671+1500del