Canonical Allele Identifier: CA316396
Gene: PCDH19 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.100408299_100408301del , CM000685.2:g.100408299_100408301del GRCh38
NC_000023.10:g.99663297_99663299del , CM000685.1:g.99663297_99663299del GRCh37
NC_000023.9:g.99549953_99549955del NCBI36
NG_021319.1:g.6977_6979del

Transcript Alleles

HGVS Amino-acid Change
ENST00000255531.8:c.301_303del ENSP00000255531.7:p.Ile101del
ENST00000373034.8:c.301_303del MANE Select ENSP00000362125.4:p.Ile101del
ENST00000420881.6:c.301_303del ENSP00000400327.2:p.Ile101del
NM_001105243.1:c.301_303del NP_001098713.1:p.Ile101del
NM_001184880.1:c.301_303del NP_001171809.1:p.Ile101del
NM_020766.2:c.301_303del NP_065817.2:p.Ile101del
XM_011530997.1:c.301_303del XP_011529299.1:p.Ile101del
XM_011530997.2:c.301_303del XP_011529299.1:p.Ile101del
NM_001105243.2:c.301_303del NP_001098713.1:p.Ile101del
NM_001184880.2:c.301_303del MANE Select NP_001171809.1:p.Ile101del
NM_020766.3:c.301_303del NP_065817.2:p.Ile101del
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