Canonical Allele Identifier: CA316399
Gene: PCDH19 HGNC NCBI

Linked Data

ClinVar Variation Id: 206349
ClinVar RCV Id: RCV000188386
dbSNP Id: rs796052826
MyVariant Identifiers: chrX:g.99663072del (hg19) chrX:g.100408074del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.100408075del , CM000685.2:g.100408075del GRCh38
NC_000023.10:g.99663073del , CM000685.1:g.99663073del GRCh37
NC_000023.9:g.99549729del NCBI36
NG_021319.1:g.7200del

Transcript Alleles

HGVS Amino-acid change
ENST00000255531.8:c.524del ENSP00000255531.7:p.Gly175AlafsTer?
ENST00000373034.8:c.524del MANE Select ENSP00000362125.4:p.Gly175AlafsTer?
ENST00000420881.6:c.524del ENSP00000400327.2:p.Gly175AlafsTer?
NM_001105243.1:c.524del NP_001098713.1:p.Gly175AlafsTer?
NM_001184880.1:c.524del NP_001171809.1:p.Gly175AlafsTer?
NM_020766.2:c.524del NP_065817.2:p.Gly175AlafsTer?
XM_011530997.1:c.524del XP_011529299.1:p.Gly175AlafsTer?
XM_011530997.2:c.524del XP_011529299.1:p.Gly175AlafsTer?
NM_001105243.2:c.524del NP_001098713.1:p.Gly175AlafsTer?
NM_001184880.2:c.524del MANE Select NP_001171809.1:p.Gly175AlafsTer?
NM_020766.3:c.524del NP_065817.2:p.Gly175AlafsTer?
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