Canonical Allele Identifier: CA2831039550

Gene: PCDH19

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.100407692_100407697delinsACTGTCACTGGC , CM000685.2:g.100407692_100407697delinsACTGTCACTGGC	GRCh38
NC_000023.10:g.99662690_99662695delinsACTGTCACTGGC , CM000685.1:g.99662690_99662695delinsACTGTCACTGGC	GRCh37
NC_000023.9:g.99549346_99549351delinsACTGTCACTGGC	NCBI36
NG_021319.1:g.7577_7582delinsGCCAGTGACAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255531.8:c.901_906delinsGCCAGTGACAGT	ENSP00000255531.7:p.Thr301_Gly302delinsAlaSerAspSer
ENST00000373034.8:c.901_906delinsGCCAGTGACAGT MANE Select	ENSP00000362125.4:p.Thr301_Gly302delinsAlaSerAspSer
ENST00000420881.6:c.901_906delinsGCCAGTGACAGT	ENSP00000400327.2:p.Thr301_Gly302delinsAlaSerAspSer
NM_001105243.1:c.901_906delinsGCCAGTGACAGT	NP_001098713.1:p.Thr301_Gly302delinsAlaSerAspSer
NM_001184880.1:c.901_906delinsGCCAGTGACAGT	NP_001171809.1:p.Thr301_Gly302delinsAlaSerAspSer
NM_020766.2:c.901_906delinsGCCAGTGACAGT	NP_065817.2:p.Thr301_Gly302delinsAlaSerAspSer
XM_011530997.1:c.901_906delinsGCCAGTGACAGT	XP_011529299.1:p.Thr301_Gly302delinsAlaSerAspSer
XM_011530997.2:c.901_906delinsGCCAGTGACAGT	XP_011529299.1:p.Thr301_Gly302delinsAlaSerAspSer
NM_001105243.2:c.901_906delinsGCCAGTGACAGT	NP_001098713.1:p.Thr301_Gly302delinsAlaSerAspSer
NM_001184880.2:c.901_906delinsGCCAGTGACAGT MANE Select	NP_001171809.1:p.Thr301_Gly302delinsAlaSerAspSer
NM_020766.3:c.901_906delinsGCCAGTGACAGT	NP_065817.2:p.Thr301_Gly302delinsAlaSerAspSer