Canonical Allele Identifier: CA5504776

Gene: PCDH15

Linked Data

• dbSNP Id: rs747270113
• ExAC: 10:55568912 TCA / T
• gnomAD v2: 10-55568912-TCA-T
• gnomAD v4: 10-53809152-TCA-T
• MyVariant Identifiers: chr10:g.55568913_55568914del (hg19) ; chr10:g.53809153_53809154del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53809153_53809154del , CM000672.2:g.53809153_53809154del	GRCh38
NC_000010.10:g.55568913_55568914del , CM000672.1:g.55568913_55568914del	GRCh37
NC_000010.9:g.55238919_55238920del	NCBI36
NG_009191.2:g.997138_997139del
NG_009191.3:g.1825029_1825030del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613657.6:c.4911_4912del	ENSP00000482794.1:p.Glu1638GlyfsTer8
ENST00000395445.6:c.4890_4891del	ENSP00000378832.2:p.Glu1631GlyfsTer8
ENST00000613657.5:c.4911_4912del	ENSP00000482794.1:p.Glu1638GlyfsTer8
ENST00000642496.1:c.3530+1402_3530+1403del
ENST00000644397.2:c.4671+1402_4671+1403del MANE Select	ENSP00000495195.1:n.4671+1402_4671+1403del
ENST00000373965.6:c.4482+1402_4482+1403del	ENSP00000363076.3:n.4482+1402_4482+1403del
ENST00000395438.5:c.*326_*327del	ENSP00000378826.2:n.*326_*327del
ENST00000395440.5:c.1698_1699del	ENSP00000378827.1:p.Glu567GlyfsTer8
ENST00000395442.5:c.1491_1492del	ENSP00000378829.1:p.Glu498GlyfsTer8
ENST00000395445.5:c.4890_4891del	ENSP00000378832.2:p.Glu1631GlyfsTer8
ENST00000395446.5:c.2484_2485del	ENSP00000378833.1:p.Glu829GlyfsTer8
ENST00000409834.5:c.*326_*327del	ENSP00000386693.1:n.*326_*327del
ENST00000414367.5:c.*949_*950del	ENSP00000412531.1:n.*949_*950del
ENST00000414778.5:c.4479+1402_4479+1403del	ENSP00000410304.2:n.4479+1402_4479+1403del
ENST00000476074.5:n.609+1402_609+1403del
ENST00000495484.5:c.699+1402_699+1403del	ENSP00000480780.1:n.699+1402_699+1403del
ENST00000612394.4:c.4908_4909del	ENSP00000482921.1:p.Glu1637GlyfsTer8
ENST00000613657.4:c.4911_4912del	ENSP00000482794.1:p.Glu1638GlyfsTer8
ENST00000614895.4:c.4494+1402_4494+1403del	ENSP00000478512.1:n.4494+1402_4494+1403del
ENST00000615043.1:c.511_512del
ENST00000616114.4:c.4476+1402_4476+1403del	ENSP00000483745.1:n.4476+1402_4476+1403del
ENST00000617271.4:c.*326_*327del	ENSP00000478076.1:n.*326_*327del
ENST00000618301.4:c.831+1402_831+1403del	ENSP00000482780.1:n.831+1402_831+1403del
ENST00000621708.4:c.4497+1402_4497+1403del	ENSP00000484454.1:n.4497+1402_4497+1403del
NM_001142769.1:c.4911_4912del	NP_001136241.1:p.Glu1638GlyfsTer8
NM_001142770.1:c.*326_*327del	NP_001136242.1:n.*326_*327del
NM_001142771.1:c.4497+1402_4497+1403del	NP_001136243.1:n.4497+1402_4497+1403del
NM_001142772.1:c.4482+1402_4482+1403del	NP_001136244.1:n.4482+1402_4482+1403del
NM_001142769.2:c.4911_4912del	NP_001136241.1:p.Glu1638GlyfsTer8
NM_001142770.2:c.*326_*327del	NP_001136242.1:n.*326_*327del
NM_001354411.1:c.4890_4891del	NP_001341340.1:p.Glu1631GlyfsTer8
NM_001354420.1:c.4476+1402_4476+1403del	NP_001341349.1:n.4476+1402_4476+1403del
NM_001354429.1:c.4605+1402_4605+1403del	NP_001341358.1:n.4605+1402_4605+1403del
XM_017016573.2:c.4890_4891del	XP_016872062.1:p.Glu1631GlyfsTer8
XR_001747192.2:n.10963+1402_10963+1403del
XR_001747193.2:n.10954+1402_10954+1403del
NM_001142769.3:c.4911_4912del	NP_001136241.1:p.Glu1638GlyfsTer8
NM_001142770.3:c.*326_*327del	NP_001136242.1:n.*326_*327del
NM_001142771.2:c.4497+1402_4497+1403del	NP_001136243.1:n.4497+1402_4497+1403del
NM_001142772.2:c.4482+1402_4482+1403del	NP_001136244.1:n.4482+1402_4482+1403del
NM_001354411.2:c.4890_4891del	NP_001341340.1:p.Glu1631GlyfsTer8
NM_001354420.2:c.4476+1402_4476+1403del	NP_001341349.1:n.4476+1402_4476+1403del
NM_001354429.2:c.4605+1402_4605+1403del	NP_001341358.1:n.4605+1402_4605+1403del
NM_001384140.1:c.4671+1402_4671+1403del MANE Select	NP_001371069.1:n.4671+1402_4671+1403del