Canonical Allele Identifier: CA658822081

Gene: PCDH15

Linked Data

• ClinVar Variation Id: 556903
• ClinVar RCV Id: RCV000672969
• dbSNP Id: rs1554815781
• MyVariant Identifiers: chr10:g.53809298_53809299del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53809299_53809300del , CM000672.2:g.53809299_53809300del	GRCh38
NC_000010.10:g.55569059_55569060del , CM000672.1:g.55569059_55569060del	GRCh37
NC_000010.9:g.55239065_55239066del	NCBI36
NG_009191.2:g.996993_996994del
NG_009191.3:g.1824884_1824885del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613657.6:c.4766_4767del	ENSP00000482794.1:p.Leu1589HisfsTer24
ENST00000395445.6:c.4745_4746del	ENSP00000378832.2:p.Leu1582HisfsTer24
ENST00000613657.5:c.4766_4767del	ENSP00000482794.1:p.Leu1589HisfsTer24
ENST00000642496.1:c.3530+1257_3530+1258del
ENST00000644397.2:c.4671+1257_4671+1258del MANE Select	ENSP00000495195.1:n.4671+1257_4671+1258del
ENST00000373965.6:c.4482+1257_4482+1258del	ENSP00000363076.3:n.4482+1257_4482+1258del
ENST00000395438.5:c.*181_*182del	ENSP00000378826.2:n.*181_*182del
ENST00000395440.5:c.1553_1554del	ENSP00000378827.1:p.Leu518HisfsTer24
ENST00000395442.5:c.1346_1347del	ENSP00000378829.1:p.Leu449HisfsTer24
ENST00000395445.5:c.4745_4746del	ENSP00000378832.2:p.Leu1582HisfsTer24
ENST00000395446.5:c.2339_2340del	ENSP00000378833.1:p.Leu780HisfsTer24
ENST00000409834.5:c.*181_*182del	ENSP00000386693.1:n.*181_*182del
ENST00000414367.5:c.*804_*805del	ENSP00000412531.1:n.*804_*805del
ENST00000414778.5:c.4479+1257_4479+1258del	ENSP00000410304.2:n.4479+1257_4479+1258del
ENST00000476074.5:n.609+1257_609+1258del
ENST00000495484.5:c.699+1257_699+1258del	ENSP00000480780.1:n.699+1257_699+1258del
ENST00000612394.4:c.4763_4764del	ENSP00000482921.1:p.Leu1588HisfsTer24
ENST00000613657.4:c.4766_4767del	ENSP00000482794.1:p.Leu1589HisfsTer24
ENST00000614895.4:c.4494+1257_4494+1258del	ENSP00000478512.1:n.4494+1257_4494+1258del
ENST00000615043.1:c.366_367del
ENST00000616114.4:c.4476+1257_4476+1258del	ENSP00000483745.1:n.4476+1257_4476+1258del
ENST00000617271.4:c.*181_*182del	ENSP00000478076.1:n.*181_*182del
ENST00000618301.4:c.831+1257_831+1258del	ENSP00000482780.1:n.831+1257_831+1258del
ENST00000621708.4:c.4497+1257_4497+1258del	ENSP00000484454.1:n.4497+1257_4497+1258del
NM_001142769.1:c.4766_4767del	NP_001136241.1:p.Leu1589HisfsTer24
NM_001142770.1:c.*181_*182del	NP_001136242.1:n.*181_*182del
NM_001142771.1:c.4497+1257_4497+1258del	NP_001136243.1:n.4497+1257_4497+1258del
NM_001142772.1:c.4482+1257_4482+1258del	NP_001136244.1:n.4482+1257_4482+1258del
NM_001142769.2:c.4766_4767del	NP_001136241.1:p.Leu1589HisfsTer24
NM_001142770.2:c.*181_*182del	NP_001136242.1:n.*181_*182del
NM_001354411.1:c.4745_4746del	NP_001341340.1:p.Leu1582HisfsTer24
NM_001354420.1:c.4476+1257_4476+1258del	NP_001341349.1:n.4476+1257_4476+1258del
NM_001354429.1:c.4605+1257_4605+1258del	NP_001341358.1:n.4605+1257_4605+1258del
XM_017016573.2:c.4745_4746del	XP_016872062.1:p.Leu1582HisfsTer24
XR_001747192.2:n.10963+1257_10963+1258del
XR_001747193.2:n.10954+1257_10954+1258del
NM_001142769.3:c.4766_4767del	NP_001136241.1:p.Leu1589HisfsTer24
NM_001142770.3:c.*181_*182del	NP_001136242.1:n.*181_*182del
NM_001142771.2:c.4497+1257_4497+1258del	NP_001136243.1:n.4497+1257_4497+1258del
NM_001142772.2:c.4482+1257_4482+1258del	NP_001136244.1:n.4482+1257_4482+1258del
NM_001354411.2:c.4745_4746del	NP_001341340.1:p.Leu1582HisfsTer24
NM_001354420.2:c.4476+1257_4476+1258del	NP_001341349.1:n.4476+1257_4476+1258del
NM_001354429.2:c.4605+1257_4605+1258del	NP_001341358.1:n.4605+1257_4605+1258del
NM_001384140.1:c.4671+1257_4671+1258del MANE Select	NP_001371069.1:n.4671+1257_4671+1258del