Canonical Allele Identifier: CA915951290

Gene: PCDH19

Linked Data

• ClinVar Variation Id: 804049
• ClinVar RCV Id: RCV000990899
• dbSNP Id: rs1602595101

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.100342054dup , CM000685.2:g.100342054dup	GRCh38
NC_000023.10:g.99597052dup , CM000685.1:g.99597052dup	GRCh37
NC_000023.9:g.99483708dup	NCBI36
NG_021319.1:g.73220dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255531.8:c.2556dup	ENSP00000255531.7:p.Glu853ArgfsTer8
ENST00000373034.8:c.2697dup MANE Select	ENSP00000362125.4:p.Glu900ArgfsTer8
ENST00000420881.6:c.2553dup	ENSP00000400327.2:p.Glu852ArgfsTer8
NM_001105243.1:c.2556dup	NP_001098713.1:p.Glu853ArgfsTer8
NM_001184880.1:c.2697dup	NP_001171809.1:p.Glu900ArgfsTer8
NM_020766.2:c.2553dup	NP_065817.2:p.Glu852ArgfsTer8
XM_011530997.1:c.2694dup	XP_011529299.1:p.Glu899ArgfsTer8
XM_011530997.2:c.2694dup	XP_011529299.1:p.Glu899ArgfsTer8
NM_001105243.2:c.2556dup	NP_001098713.1:p.Glu853ArgfsTer8
NM_001184880.2:c.2697dup MANE Select	NP_001171809.1:p.Glu900ArgfsTer8
NM_020766.3:c.2553dup	NP_065817.2:p.Glu852ArgfsTer8