Canonical Allele Identifier: CA645369813

Gene: PCDH19

Linked Data

• ClinVar Variation Id: 429401
• ClinVar RCV Id: RCV000493857
• dbSNP Id: rs1131691362
• MyVariant Identifiers: chrX:g.99662718dup (hg19) ; chrX:g.99662717_99662718insG (hg19) ; chrX:g.100407720dup (hg38) ; chrX:g.100407719_100407720insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.100407722dup , CM000685.2:g.100407722dup	GRCh38
NC_000023.10:g.99662720dup , CM000685.1:g.99662720dup	GRCh37
NC_000023.9:g.99549376dup	NCBI36
NG_021319.1:g.7554dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255531.8:c.878dup	ENSP00000255531.7:p.His294AlafsTer26
ENST00000373034.8:c.878dup MANE Select	ENSP00000362125.4:p.His294AlafsTer26
ENST00000420881.6:c.878dup	ENSP00000400327.2:p.His294AlafsTer26
NM_001105243.1:c.878dup	NP_001098713.1:p.His294AlafsTer26
NM_001184880.1:c.878dup	NP_001171809.1:p.His294AlafsTer26
NM_020766.2:c.878dup	NP_065817.2:p.His294AlafsTer26
XM_011530997.1:c.878dup	XP_011529299.1:p.His294AlafsTer26
XM_011530997.2:c.878dup	XP_011529299.1:p.His294AlafsTer26
NM_001105243.2:c.878dup	NP_001098713.1:p.His294AlafsTer26
NM_001184880.2:c.878dup MANE Select	NP_001171809.1:p.His294AlafsTer26
NM_020766.3:c.878dup	NP_065817.2:p.His294AlafsTer26