Canonical Allele Identifier: CA593782931

Gene: PCDH15

Linked Data

• dbSNP Id: rs1276280140
• gnomAD v2: 10-55566343-A-AGTT
• MyVariant Identifiers: chr10:g.55566343_55566344insGTT (hg19) ; chr10:g.53806583_53806584insGTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806584_53806586dup , CM000672.2:g.53806584_53806586dup	GRCh38
NC_000010.10:g.55566344_55566346dup , CM000672.1:g.55566344_55566346dup	GRCh37
NC_000010.9:g.55236350_55236352dup	NCBI36
NG_009191.2:g.999706_999708dup
NG_009191.3:g.1827597_1827599dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642496.1:c.4075_4077dup
ENST00000644397.2:c.5216_5218dup MANE Select	ENSP00000495195.1:p.Lys1739_Leu1740insGln
ENST00000373965.6:c.5027_5029dup	ENSP00000363076.3:p.Lys1676_Leu1677insGln
ENST00000414778.5:c.5024_5026dup	ENSP00000410304.2:p.Lys1675_Leu1676insGln
ENST00000495484.5:c.1244_1246dup	ENSP00000480780.1:p.Lys415_Leu416insGln
ENST00000614895.4:c.5039_5041dup	ENSP00000478512.1:p.Lys1680_Leu1681insGln
ENST00000616114.4:c.5021_5023dup	ENSP00000483745.1:p.Lys1674_Leu1675insGln
ENST00000618301.4:c.1376_1378dup	ENSP00000482780.1:p.Lys459_Leu460insGln
ENST00000621708.4:c.5042_5044dup	ENSP00000484454.1:p.Lys1681_Leu1682insGln
NM_001142771.1:c.5042_5044dup	NP_001136243.1:p.Lys1681_Leu1682insGln
NM_001142772.1:c.5027_5029dup	NP_001136244.1:p.Lys1676_Leu1677insGln
NM_001354420.1:c.5021_5023dup	NP_001341349.1:p.Lys1674_Leu1675insGln
NM_001354429.1:c.5150_5152dup	NP_001341358.1:p.Lys1717_Leu1718insGln
XR_001747192.2:n.11508_11510dup
XR_001747193.2:n.11499_11501dup
NM_001142771.2:c.5042_5044dup	NP_001136243.1:p.Lys1681_Leu1682insGln
NM_001142772.2:c.5027_5029dup	NP_001136244.1:p.Lys1676_Leu1677insGln
NM_001354420.2:c.5021_5023dup	NP_001341349.1:p.Lys1674_Leu1675insGln
NM_001354429.2:c.5150_5152dup	NP_001341358.1:p.Lys1717_Leu1718insGln
NM_001384140.1:c.5216_5218dup MANE Select	NP_001371069.1:p.Lys1739_Leu1740insGln