Canonical Allele Identifier: CA2822655083

Gene: PCDH19

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.100342052_100342053insGCTTCAGGTATGCACGGCGGAAACGGTAGTGAGCCACGGCGATACCCACCCAGGTGATGAAGCCAGCCAGACCGGACACGTTCAC , CM000685.2:g.100342052_100342053insGCTTCAGGTATGCACGGCGGAAACGGTAGTGAGCCACGGCGATACCCACCCAGGTGATGAAGCCAGCCAGACCGGACACGTTCAC	GRCh38
NC_000023.10:g.99597050_99597051insGCTTCAGGTATGCACGGCGGAAACGGTAGTGAGCCACGGCGATACCCACCCAGGTGATGAAGCCAGCCAGACCGGACACGTTCAC , CM000685.1:g.99597050_99597051insGCTTCAGGTATGCACGGCGGAAACGGTAGTGAGCCACGGCGATACCCACCCAGGTGATGAAGCCAGCCAGACCGGACACGTTCAC	GRCh37
NC_000023.9:g.99483706_99483707insGCTTCAGGTATGCACGGCGGAAACGGTAGTGAGCCACGGCGATACCCACCCAGGTGATGAAGCCAGCCAGACCGGACACGTTCAC	NCBI36
NG_021319.1:g.73221_73222insGTGAACGTGTCCGGTCTGGCTGGCTTCATCACCTGGGTGGGTATCGCCGTGGCTCACTACCGTTTCCGCCGTGCATACCTGAAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255531.8:c.2557_2558insGTGAACGTGTCCGGTCTGGCTGGCTTCATCACCTGGGTGGGTATCGCCGTGGCTCACTACCGTTTCCGCCGTGCATACCTGAAGC	ENSP00000255531.7:p.Glu853GlyfsTer36
ENST00000373034.8:c.2698_2699insGTGAACGTGTCCGGTCTGGCTGGCTTCATCACCTGGGTGGGTATCGCCGTGGCTCACTACCGTTTCCGCCGTGCATACCTGAAGC MANE Select	ENSP00000362125.4:p.Glu900GlyfsTer36
ENST00000420881.6:c.2554_2555insGTGAACGTGTCCGGTCTGGCTGGCTTCATCACCTGGGTGGGTATCGCCGTGGCTCACTACCGTTTCCGCCGTGCATACCTGAAGC	ENSP00000400327.2:p.Glu852GlyfsTer36
NM_001105243.1:c.2557_2558insGTGAACGTGTCCGGTCTGGCTGGCTTCATCACCTGGGTGGGTATCGCCGTGGCTCACTACCGTTTCCGCCGTGCATACCTGAAGC	NP_001098713.1:p.Glu853GlyfsTer36
NM_001184880.1:c.2698_2699insGTGAACGTGTCCGGTCTGGCTGGCTTCATCACCTGGGTGGGTATCGCCGTGGCTCACTACCGTTTCCGCCGTGCATACCTGAAGC	NP_001171809.1:p.Glu900GlyfsTer36
NM_020766.2:c.2554_2555insGTGAACGTGTCCGGTCTGGCTGGCTTCATCACCTGGGTGGGTATCGCCGTGGCTCACTACCGTTTCCGCCGTGCATACCTGAAGC	NP_065817.2:p.Glu852GlyfsTer36
XM_011530997.1:c.2695_2696insGTGAACGTGTCCGGTCTGGCTGGCTTCATCACCTGGGTGGGTATCGCCGTGGCTCACTACCGTTTCCGCCGTGCATACCTGAAGC	XP_011529299.1:p.Glu899GlyfsTer36
XM_011530997.2:c.2695_2696insGTGAACGTGTCCGGTCTGGCTGGCTTCATCACCTGGGTGGGTATCGCCGTGGCTCACTACCGTTTCCGCCGTGCATACCTGAAGC	XP_011529299.1:p.Glu899GlyfsTer36
NM_001105243.2:c.2557_2558insGTGAACGTGTCCGGTCTGGCTGGCTTCATCACCTGGGTGGGTATCGCCGTGGCTCACTACCGTTTCCGCCGTGCATACCTGAAGC	NP_001098713.1:p.Glu853GlyfsTer36
NM_001184880.2:c.2698_2699insGTGAACGTGTCCGGTCTGGCTGGCTTCATCACCTGGGTGGGTATCGCCGTGGCTCACTACCGTTTCCGCCGTGCATACCTGAAGC MANE Select	NP_001171809.1:p.Glu900GlyfsTer36
NM_020766.3:c.2554_2555insGTGAACGTGTCCGGTCTGGCTGGCTTCATCACCTGGGTGGGTATCGCCGTGGCTCACTACCGTTTCCGCCGTGCATACCTGAAGC	NP_065817.2:p.Glu852GlyfsTer36