Canonical Allele Identifier: CA593782934

Gene: PCDH15

Linked Data

• ClinVar Variation Id: 557802
• ClinVar RCV Id: RCV000673986
• dbSNP Id: rs1198732380
• gnomAD v2: 10-55566452-T-TGTCA
• gnomAD v4: 10-53806692-T-TGTCA
• MyVariant Identifiers: chr10:g.55566452_55566453insGTCA (hg19) ; chr10:g.53806693_53806696dupGTCA (hg38) ; chr10:g.53806692_53806693insGTCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806693_53806696dup , CM000672.2:g.53806693_53806696dup	GRCh38
NC_000010.10:g.55566453_55566456dup , CM000672.1:g.55566453_55566456dup	GRCh37
NC_000010.9:g.55236459_55236462dup	NCBI36
NG_009191.2:g.999596_999599dup
NG_009191.3:g.1827487_1827490dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642496.1:c.3965_3968dup
ENST00000644397.2:c.5106_5109dup MANE Select	ENSP00000495195.1:p.Ser1704Ter
ENST00000373965.6:c.4917_4920dup	ENSP00000363076.3:p.Ser1641Ter
ENST00000414778.5:c.4914_4917dup	ENSP00000410304.2:p.Ser1640Ter
ENST00000495484.5:c.1134_1137dup	ENSP00000480780.1:p.Ser380Ter
ENST00000614895.4:c.4929_4932dup	ENSP00000478512.1:p.Ser1645Ter
ENST00000616114.4:c.4911_4914dup	ENSP00000483745.1:p.Ser1639Ter
ENST00000618301.4:c.1266_1269dup	ENSP00000482780.1:p.Ser424Ter
ENST00000621708.4:c.4932_4935dup	ENSP00000484454.1:p.Ser1646Ter
NM_001142771.1:c.4932_4935dup	NP_001136243.1:p.Ser1646Ter
NM_001142772.1:c.4917_4920dup	NP_001136244.1:p.Ser1641Ter
NM_001354420.1:c.4911_4914dup	NP_001341349.1:p.Ser1639Ter
NM_001354429.1:c.5040_5043dup	NP_001341358.1:p.Ser1682Ter
XR_001747192.2:n.11398_11401dup
XR_001747193.2:n.11389_11392dup
NM_001142771.2:c.4932_4935dup	NP_001136243.1:p.Ser1646Ter
NM_001142772.2:c.4917_4920dup	NP_001136244.1:p.Ser1641Ter
NM_001354420.2:c.4911_4914dup	NP_001341349.1:p.Ser1639Ter
NM_001354429.2:c.5040_5043dup	NP_001341358.1:p.Ser1682Ter
NM_001384140.1:c.5106_5109dup MANE Select	NP_001371069.1:p.Ser1704Ter