Canonical Allele Identifier: CA316400
Gene: PCDH19 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.100407793del , CM000685.2:g.100407793del GRCh38
NC_000023.10:g.99662791del , CM000685.1:g.99662791del GRCh37
NC_000023.9:g.99549447del NCBI36
NG_021319.1:g.7481del

Transcript Alleles

HGVS Amino-acid Change
ENST00000255531.8:c.805del ENSP00000255531.7:p.Thr269ProfsTer?
ENST00000373034.8:c.805del MANE Select ENSP00000362125.4:p.Thr269ProfsTer?
ENST00000420881.6:c.805del ENSP00000400327.2:p.Thr269ProfsTer?
NM_001105243.1:c.805del NP_001098713.1:p.Thr269ProfsTer?
NM_001184880.1:c.805del NP_001171809.1:p.Thr269ProfsTer?
NM_020766.2:c.805del NP_065817.2:p.Thr269ProfsTer?
XM_011530997.1:c.805del XP_011529299.1:p.Thr269ProfsTer?
XM_011530997.2:c.805del XP_011529299.1:p.Thr269ProfsTer?
NM_001105243.2:c.805del NP_001098713.1:p.Thr269ProfsTer?
NM_001184880.2:c.805del MANE Select NP_001171809.1:p.Thr269ProfsTer?
NM_020766.3:c.805del NP_065817.2:p.Thr269ProfsTer?
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