Canonical Allele Identifier: CA593783047

Gene: PCDH15

Linked Data

• ClinVar Variation Id: 549879
• ClinVar RCV Id: RCV000664454
• dbSNP Id: rs1343032451
• gnomAD v2: 10-55569015-C-CTGAT
• gnomAD v3: 10-53809255-C-CTGAT
• gnomAD v4: 10-53809255-C-CTGAT
• MyVariant Identifiers: chr10:g.55569015_55569016insTGAT (hg19) ; chr10:g.53809257_53809260dupGATT (hg38) ; chr10:g.53809255_53809256insTGAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53809257_53809260dup , CM000672.2:g.53809257_53809260dup	GRCh38
NC_000010.10:g.55569017_55569020dup , CM000672.1:g.55569017_55569020dup	GRCh37
NC_000010.9:g.55239023_55239026dup	NCBI36
NG_009191.2:g.997033_997036dup
NG_009191.3:g.1824924_1824927dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613657.6:c.4806_4809dup	ENSP00000482794.1:p.Glu1604IlefsTer11
ENST00000395445.6:c.4785_4788dup	ENSP00000378832.2:p.Glu1597IlefsTer11
ENST00000613657.5:c.4806_4809dup	ENSP00000482794.1:p.Glu1604IlefsTer11
ENST00000642496.1:c.3530+1297_3530+1300dup
ENST00000644397.2:c.4671+1297_4671+1300dup MANE Select	ENSP00000495195.1:n.4671+1297_4671+1300dup
ENST00000373965.6:c.4482+1297_4482+1300dup	ENSP00000363076.3:n.4482+1297_4482+1300dup
ENST00000395438.5:c.*221_*224dup	ENSP00000378826.2:n.*221_*224dup
ENST00000395440.5:c.1593_1596dup	ENSP00000378827.1:p.Glu533IlefsTer11
ENST00000395442.5:c.1386_1389dup	ENSP00000378829.1:p.Glu464IlefsTer11
ENST00000395445.5:c.4785_4788dup	ENSP00000378832.2:p.Glu1597IlefsTer11
ENST00000395446.5:c.2379_2382dup	ENSP00000378833.1:p.Glu795IlefsTer11
ENST00000409834.5:c.*221_*224dup	ENSP00000386693.1:n.*221_*224dup
ENST00000414367.5:c.*844_*847dup	ENSP00000412531.1:n.*844_*847dup
ENST00000414778.5:c.4479+1297_4479+1300dup	ENSP00000410304.2:n.4479+1297_4479+1300dup
ENST00000476074.5:n.609+1297_609+1300dup
ENST00000495484.5:c.699+1297_699+1300dup	ENSP00000480780.1:n.699+1297_699+1300dup
ENST00000612394.4:c.4803_4806dup	ENSP00000482921.1:p.Glu1603IlefsTer11
ENST00000613657.4:c.4806_4809dup	ENSP00000482794.1:p.Glu1604IlefsTer11
ENST00000614895.4:c.4494+1297_4494+1300dup	ENSP00000478512.1:n.4494+1297_4494+1300dup
ENST00000615043.1:c.406_409dup
ENST00000616114.4:c.4476+1297_4476+1300dup	ENSP00000483745.1:n.4476+1297_4476+1300dup
ENST00000617271.4:c.*221_*224dup	ENSP00000478076.1:n.*221_*224dup
ENST00000618301.4:c.831+1297_831+1300dup	ENSP00000482780.1:n.831+1297_831+1300dup
ENST00000621708.4:c.4497+1297_4497+1300dup	ENSP00000484454.1:n.4497+1297_4497+1300dup
NM_001142769.1:c.4806_4809dup	NP_001136241.1:p.Glu1604IlefsTer11
NM_001142770.1:c.*221_*224dup	NP_001136242.1:n.*221_*224dup
NM_001142771.1:c.4497+1297_4497+1300dup	NP_001136243.1:n.4497+1297_4497+1300dup
NM_001142772.1:c.4482+1297_4482+1300dup	NP_001136244.1:n.4482+1297_4482+1300dup
NM_001142769.2:c.4806_4809dup	NP_001136241.1:p.Glu1604IlefsTer11
NM_001142770.2:c.*221_*224dup	NP_001136242.1:n.*221_*224dup
NM_001354411.1:c.4785_4788dup	NP_001341340.1:p.Glu1597IlefsTer11
NM_001354420.1:c.4476+1297_4476+1300dup	NP_001341349.1:n.4476+1297_4476+1300dup
NM_001354429.1:c.4605+1297_4605+1300dup	NP_001341358.1:n.4605+1297_4605+1300dup
XM_017016573.2:c.4785_4788dup	XP_016872062.1:p.Glu1597IlefsTer11
XR_001747192.2:n.10963+1297_10963+1300dup
XR_001747193.2:n.10954+1297_10954+1300dup
NM_001142769.3:c.4806_4809dup	NP_001136241.1:p.Glu1604IlefsTer11
NM_001142770.3:c.*221_*224dup	NP_001136242.1:n.*221_*224dup
NM_001142771.2:c.4497+1297_4497+1300dup	NP_001136243.1:n.4497+1297_4497+1300dup
NM_001142772.2:c.4482+1297_4482+1300dup	NP_001136244.1:n.4482+1297_4482+1300dup
NM_001354411.2:c.4785_4788dup	NP_001341340.1:p.Glu1597IlefsTer11
NM_001354420.2:c.4476+1297_4476+1300dup	NP_001341349.1:n.4476+1297_4476+1300dup
NM_001354429.2:c.4605+1297_4605+1300dup	NP_001341358.1:n.4605+1297_4605+1300dup
NM_001384140.1:c.4671+1297_4671+1300dup MANE Select	NP_001371069.1:n.4671+1297_4671+1300dup