Canonical Allele Identifier: CA16621902
Gene: PCDH19 HGNC NCBI

Linked Data

ClinVar Variation Id: 425510
ClinVar RCV Id: RCV000487680
dbSNP Id: rs1064797377

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.100407732_100407735del , CM000685.2:g.100407732_100407735del GRCh38
NC_000023.10:g.99662730_99662733del , CM000685.1:g.99662730_99662733del GRCh37
NC_000023.9:g.99549386_99549389del NCBI36
NG_021319.1:g.7541_7544del

Transcript Alleles

HGVS Amino-acid change
ENST00000255531.8:c.865_868del ENSP00000255531.7:p.Phe289ArgfsTer15
ENST00000373034.8:c.865_868del MANE Select ENSP00000362125.4:p.Phe289ArgfsTer15
ENST00000420881.6:c.865_868del ENSP00000400327.2:p.Phe289ArgfsTer15
NM_001105243.1:c.865_868del NP_001098713.1:p.Phe289ArgfsTer15
NM_001184880.1:c.865_868del NP_001171809.1:p.Phe289ArgfsTer15
NM_020766.2:c.865_868del NP_065817.2:p.Phe289ArgfsTer15
XM_011530997.1:c.865_868del XP_011529299.1:p.Phe289ArgfsTer15
XM_011530997.2:c.865_868del XP_011529299.1:p.Phe289ArgfsTer15
NM_001105243.2:c.865_868del NP_001098713.1:p.Phe289ArgfsTer15
NM_001184880.2:c.865_868del MANE Select NP_001171809.1:p.Phe289ArgfsTer15
NM_020766.3:c.865_868del NP_065817.2:p.Phe289ArgfsTer15