Canonical Allele Identifier: CA913191148

Gene: PCDH19

Linked Data

• ClinVar Variation Id: 597883
• ClinVar RCV Id: RCV000734137
• dbSNP Id: rs1569315381

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.100407757del , CM000685.2:g.100407757del	GRCh38
NC_000023.10:g.99662755del , CM000685.1:g.99662755del	GRCh37
NC_000023.9:g.99549411del	NCBI36
NG_021319.1:g.7517del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255531.8:c.841del	ENSP00000255531.7:p.Val281SerfsTer24
ENST00000373034.8:c.841del MANE Select	ENSP00000362125.4:p.Val281SerfsTer24
ENST00000420881.6:c.841del	ENSP00000400327.2:p.Val281SerfsTer24
NM_001105243.1:c.841del	NP_001098713.1:p.Val281SerfsTer24
NM_001184880.1:c.841del	NP_001171809.1:p.Val281SerfsTer24
NM_020766.2:c.841del	NP_065817.2:p.Val281SerfsTer24
XM_011530997.1:c.841del	XP_011529299.1:p.Val281SerfsTer24
XM_011530997.2:c.841del	XP_011529299.1:p.Val281SerfsTer24
NM_001105243.2:c.841del	NP_001098713.1:p.Val281SerfsTer24
NM_001184880.2:c.841del MANE Select	NP_001171809.1:p.Val281SerfsTer24
NM_020766.3:c.841del	NP_065817.2:p.Val281SerfsTer24