Canonical Allele Identifier: CA2573159044

Gene: PCDH19

Linked Data

• ClinVar Variation Id: 1451949
• ClinVar RCV Id: RCV002007471
• dbSNP Id: rs2147540245

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.100407712_100407715dup , CM000685.2:g.100407712_100407715dup	GRCh38
NC_000023.10:g.99662710_99662713dup , CM000685.1:g.99662710_99662713dup	GRCh37
NC_000023.9:g.99549366_99549369dup	NCBI36
NG_021319.1:g.7559_7562dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255531.8:c.883_886dup	ENSP00000255531.7:p.Gly296GlufsTer25
ENST00000373034.8:c.883_886dup MANE Select	ENSP00000362125.4:p.Gly296GlufsTer25
ENST00000420881.6:c.883_886dup	ENSP00000400327.2:p.Gly296GlufsTer25
NM_001105243.1:c.883_886dup	NP_001098713.1:p.Gly296GlufsTer25
NM_001184880.1:c.883_886dup	NP_001171809.1:p.Gly296GlufsTer25
NM_020766.2:c.883_886dup	NP_065817.2:p.Gly296GlufsTer25
XM_011530997.1:c.883_886dup	XP_011529299.1:p.Gly296GlufsTer25
XM_011530997.2:c.883_886dup	XP_011529299.1:p.Gly296GlufsTer25
NM_001105243.2:c.883_886dup	NP_001098713.1:p.Gly296GlufsTer25
NM_001184880.2:c.883_886dup MANE Select	NP_001171809.1:p.Gly296GlufsTer25
NM_020766.3:c.883_886dup	NP_065817.2:p.Gly296GlufsTer25