Canonical Allele Identifier: CA658799826

Gene: PCDH19

Linked Data

• ClinVar Variation Id: 504290
• ClinVar RCV Id: RCV000598651 ; RCV000689380
• dbSNP Id: rs1555985416
• MyVariant Identifiers: chrX:g.99662717_99662721dup (hg19) ; chrX:g.100407719_100407723dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.100407721_100407725dup , CM000685.2:g.100407721_100407725dup	GRCh38
NC_000023.10:g.99662719_99662723dup , CM000685.1:g.99662719_99662723dup	GRCh37
NC_000023.9:g.99549375_99549379dup	NCBI36
NG_021319.1:g.7551_7555dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255531.8:c.875_879dup	ENSP00000255531.7:p.His294ThrfsTer13
ENST00000373034.8:c.875_879dup MANE Select	ENSP00000362125.4:p.His294ThrfsTer13
ENST00000420881.6:c.875_879dup	ENSP00000400327.2:p.His294ThrfsTer13
NM_001105243.1:c.875_879dup	NP_001098713.1:p.His294ThrfsTer13
NM_001184880.1:c.875_879dup	NP_001171809.1:p.His294ThrfsTer13
NM_020766.2:c.875_879dup	NP_065817.2:p.His294ThrfsTer13
XM_011530997.1:c.875_879dup	XP_011529299.1:p.His294ThrfsTer13
XM_011530997.2:c.875_879dup	XP_011529299.1:p.His294ThrfsTer13
NM_001105243.2:c.875_879dup	NP_001098713.1:p.His294ThrfsTer13
NM_001184880.2:c.875_879dup MANE Select	NP_001171809.1:p.His294ThrfsTer13
NM_020766.3:c.875_879dup	NP_065817.2:p.His294ThrfsTer13