Canonical Allele Identifier: CA1139667039
Gene: PCDH19 HGNC NCBI

Linked Data

ClinVar Variation Id: 872427
ClinVar RCV Id: RCV001092882
dbSNP Id: rs1928379522
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.100407047_100407096del , CM000685.2:g.100407047_100407096del GRCh38
NC_000023.10:g.99662045_99662094del , CM000685.1:g.99662045_99662094del GRCh37
NC_000023.9:g.99548701_99548750del NCBI36
NG_021319.1:g.8181_8230del

Transcript Alleles

HGVS Amino-acid change
ENST00000255531.8:c.1505_1554del ENSP00000255531.7:p.Val502AlafsTer4
ENST00000373034.8:c.1505_1554del MANE Select ENSP00000362125.4:p.Val502AlafsTer4
ENST00000420881.6:c.1505_1554del ENSP00000400327.2:p.Val502AlafsTer4
NM_001105243.1:c.1505_1554del NP_001098713.1:p.Val502AlafsTer4
NM_001184880.1:c.1505_1554del NP_001171809.1:p.Val502AlafsTer4
NM_020766.2:c.1505_1554del NP_065817.2:p.Val502AlafsTer4
XM_011530997.1:c.1505_1554del XP_011529299.1:p.Val502AlafsTer4
XM_011530997.2:c.1505_1554del XP_011529299.1:p.Val502AlafsTer4
NM_001105243.2:c.1505_1554del NP_001098713.1:p.Val502AlafsTer4
NM_001184880.2:c.1505_1554del MANE Select NP_001171809.1:p.Val502AlafsTer4
NM_020766.3:c.1505_1554del NP_065817.2:p.Val502AlafsTer4
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