Canonical Allele Identifier: CA658822066

Gene: PCDH15

Linked Data

• ClinVar Variation Id: 557584
• ClinVar RCV Id: RCV000673742
• dbSNP Id: rs1554814635
• MyVariant Identifiers: chr10:g.53806634_53806636del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806640_53806642del , CM000672.2:g.53806640_53806642del	GRCh38
NC_000010.10:g.55566400_55566402del , CM000672.1:g.55566400_55566402del	GRCh37
NC_000010.9:g.55236406_55236408del	NCBI36
NG_009191.2:g.999656_999658del
NG_009191.3:g.1827547_1827549del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642496.1:c.4025_4027del
ENST00000644397.2:c.5166_5168del MANE Select	ENSP00000495195.1:p.Asp1722del
ENST00000373965.6:c.4977_4979del	ENSP00000363076.3:p.Asp1659del
ENST00000414778.5:c.4974_4976del	ENSP00000410304.2:p.Asp1658del
ENST00000495484.5:c.1194_1196del	ENSP00000480780.1:p.Asp398del
ENST00000614895.4:c.4989_4991del	ENSP00000478512.1:p.Asp1663del
ENST00000616114.4:c.4971_4973del	ENSP00000483745.1:p.Asp1657del
ENST00000618301.4:c.1326_1328del	ENSP00000482780.1:p.Asp442del
ENST00000621708.4:c.4992_4994del	ENSP00000484454.1:p.Asp1664del
NM_001142771.1:c.4992_4994del	NP_001136243.1:p.Asp1664del
NM_001142772.1:c.4977_4979del	NP_001136244.1:p.Asp1659del
NM_001354420.1:c.4971_4973del	NP_001341349.1:p.Asp1657del
NM_001354429.1:c.5100_5102del	NP_001341358.1:p.Asp1700del
XR_001747192.2:n.11458_11460del
XR_001747193.2:n.11449_11451del
NM_001142771.2:c.4992_4994del	NP_001136243.1:p.Asp1664del
NM_001142772.2:c.4977_4979del	NP_001136244.1:p.Asp1659del
NM_001354420.2:c.4971_4973del	NP_001341349.1:p.Asp1657del
NM_001354429.2:c.5100_5102del	NP_001341358.1:p.Asp1700del
NM_001384140.1:c.5166_5168del MANE Select	NP_001371069.1:p.Asp1722del