Canonical Allele Identifier: CA916083980
Gene: PCDH19 HGNC NCBI

Linked Data

ClinVar Variation Id: 870163
ClinVar RCV Id: RCV001089698
dbSNP Id: rs1928424443
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.100407752_100407779del , CM000685.2:g.100407752_100407779del GRCh38
NC_000023.10:g.99662750_99662777del , CM000685.1:g.99662750_99662777del GRCh37
NC_000023.9:g.99549406_99549433del NCBI36
NG_021319.1:g.7496_7523del

Transcript Alleles

HGVS Amino-acid Change
ENST00000255531.8:c.820_847del ENSP00000255531.7:p.Val274ThrfsTer22
ENST00000373034.8:c.820_847del MANE Select ENSP00000362125.4:p.Val274ThrfsTer22
ENST00000420881.6:c.820_847del ENSP00000400327.2:p.Val274ThrfsTer22
NM_001105243.1:c.820_847del NP_001098713.1:p.Val274ThrfsTer22
NM_001184880.1:c.820_847del NP_001171809.1:p.Val274ThrfsTer22
NM_020766.2:c.820_847del NP_065817.2:p.Val274ThrfsTer22
XM_011530997.1:c.820_847del XP_011529299.1:p.Val274ThrfsTer22
XM_011530997.2:c.820_847del XP_011529299.1:p.Val274ThrfsTer22
NM_001105243.2:c.820_847del NP_001098713.1:p.Val274ThrfsTer22
NM_001184880.2:c.820_847del MANE Select NP_001171809.1:p.Val274ThrfsTer22
NM_020766.3:c.820_847del NP_065817.2:p.Val274ThrfsTer22
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