Canonical Allele Identifier: CA658799826
Gene: PCDH19 HGNC NCBI

Linked Data

ClinVar Variation Id: 504290
dbSNP Id: rs1555985416

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