Canonical Allele Identifier: CA658822068

Gene: PCDH15

Linked Data

• ClinVar Variation Id: 554897
• ClinVar RCV Id: RCV000670609
• dbSNP Id: rs1554814684
• MyVariant Identifiers: chr10:g.53806713_53806720del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806714_53806721del , CM000672.2:g.53806714_53806721del	GRCh38
NC_000010.10:g.55566474_55566481del , CM000672.1:g.55566474_55566481del	GRCh37
NC_000010.9:g.55236480_55236487del	NCBI36
NG_009191.2:g.999572_999579del
NG_009191.3:g.1827463_1827470del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642496.1:c.3941_3948del
ENST00000644397.2:c.5082_5089del MANE Select	ENSP00000495195.1:p.Ser1694ArgfsTer7
ENST00000373965.6:c.4893_4900del	ENSP00000363076.3:p.Ser1631ArgfsTer7
ENST00000414778.5:c.4890_4897del	ENSP00000410304.2:p.Ser1630ArgfsTer7
ENST00000495484.5:c.1110_1117del	ENSP00000480780.1:p.Ser370ArgfsTer7
ENST00000614895.4:c.4905_4912del	ENSP00000478512.1:p.Ser1635ArgfsTer7
ENST00000616114.4:c.4887_4894del	ENSP00000483745.1:p.Ser1629ArgfsTer7
ENST00000618301.4:c.1242_1249del	ENSP00000482780.1:p.Ser414ArgfsTer7
ENST00000621708.4:c.4908_4915del	ENSP00000484454.1:p.Ser1636ArgfsTer7
NM_001142771.1:c.4908_4915del	NP_001136243.1:p.Ser1636ArgfsTer7
NM_001142772.1:c.4893_4900del	NP_001136244.1:p.Ser1631ArgfsTer7
NM_001354420.1:c.4887_4894del	NP_001341349.1:p.Ser1629ArgfsTer7
NM_001354429.1:c.5016_5023del	NP_001341358.1:p.Ser1672ArgfsTer7
XR_001747192.2:n.11374_11381del
XR_001747193.2:n.11365_11372del
NM_001142771.2:c.4908_4915del	NP_001136243.1:p.Ser1636ArgfsTer7
NM_001142772.2:c.4893_4900del	NP_001136244.1:p.Ser1631ArgfsTer7
NM_001354420.2:c.4887_4894del	NP_001341349.1:p.Ser1629ArgfsTer7
NM_001354429.2:c.5016_5023del	NP_001341358.1:p.Ser1672ArgfsTer7
NM_001384140.1:c.5082_5089del MANE Select	NP_001371069.1:p.Ser1694ArgfsTer7