Canonical Allele Identifier: CA1910755824

Gene: PCDH15

Linked Data

• dbSNP Id: rs1554814635
• gnomAD v4: 10-53806633-T-TTCA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806640_53806642dup , CM000672.2:g.53806640_53806642dup	GRCh38
NC_000010.10:g.55566400_55566402dup , CM000672.1:g.55566400_55566402dup	GRCh37
NC_000010.9:g.55236406_55236408dup	NCBI36
NG_009191.2:g.999656_999658dup
NG_009191.3:g.1827547_1827549dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642496.1:c.4025_4027dup
ENST00000644397.2:c.5166_5168dup MANE Select	ENSP00000495195.1:p.Asp1722_Glu1723insAsp
ENST00000373965.6:c.4977_4979dup	ENSP00000363076.3:p.Asp1659_Glu1660insAsp
ENST00000414778.5:c.4974_4976dup	ENSP00000410304.2:p.Asp1658_Glu1659insAsp
ENST00000495484.5:c.1194_1196dup	ENSP00000480780.1:p.Asp398_Glu399insAsp
ENST00000614895.4:c.4989_4991dup	ENSP00000478512.1:p.Asp1663_Glu1664insAsp
ENST00000616114.4:c.4971_4973dup	ENSP00000483745.1:p.Asp1657_Glu1658insAsp
ENST00000618301.4:c.1326_1328dup	ENSP00000482780.1:p.Asp442_Glu443insAsp
ENST00000621708.4:c.4992_4994dup	ENSP00000484454.1:p.Asp1664_Glu1665insAsp
NM_001142771.1:c.4992_4994dup	NP_001136243.1:p.Asp1664_Glu1665insAsp
NM_001142772.1:c.4977_4979dup	NP_001136244.1:p.Asp1659_Glu1660insAsp
NM_001354420.1:c.4971_4973dup	NP_001341349.1:p.Asp1657_Glu1658insAsp
NM_001354429.1:c.5100_5102dup	NP_001341358.1:p.Asp1700_Glu1701insAsp
XR_001747192.2:n.11458_11460dup
XR_001747193.2:n.11449_11451dup
NM_001142771.2:c.4992_4994dup	NP_001136243.1:p.Asp1664_Glu1665insAsp
NM_001142772.2:c.4977_4979dup	NP_001136244.1:p.Asp1659_Glu1660insAsp
NM_001354420.2:c.4971_4973dup	NP_001341349.1:p.Asp1657_Glu1658insAsp
NM_001354429.2:c.5100_5102dup	NP_001341358.1:p.Asp1700_Glu1701insAsp
NM_001384140.1:c.5166_5168dup MANE Select	NP_001371069.1:p.Asp1722_Glu1723insAsp