Canonical Allele Identifier: CA2695197169

Gene: PCDH19

Linked Data

• ClinVar Variation Id: 2637972
• ClinVar RCV Id: RCV003389939

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.100407731_100407735dup , CM000685.2:g.100407731_100407735dup	GRCh38
NC_000023.10:g.99662729_99662733dup , CM000685.1:g.99662729_99662733dup	GRCh37
NC_000023.9:g.99549385_99549389dup	NCBI36
NG_021319.1:g.7539_7543dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255531.8:c.863_867dup	ENSP00000255531.7:p.Gln290SerfsTer17
ENST00000373034.8:c.863_867dup MANE Select	ENSP00000362125.4:p.Gln290SerfsTer17
ENST00000420881.6:c.863_867dup	ENSP00000400327.2:p.Gln290SerfsTer17
NM_001105243.1:c.863_867dup	NP_001098713.1:p.Gln290SerfsTer17
NM_001184880.1:c.863_867dup	NP_001171809.1:p.Gln290SerfsTer17
NM_020766.2:c.863_867dup	NP_065817.2:p.Gln290SerfsTer17
XM_011530997.1:c.863_867dup	XP_011529299.1:p.Gln290SerfsTer17
XM_011530997.2:c.863_867dup	XP_011529299.1:p.Gln290SerfsTer17
NM_001105243.2:c.863_867dup	NP_001098713.1:p.Gln290SerfsTer17
NM_001184880.2:c.863_867dup MANE Select	NP_001171809.1:p.Gln290SerfsTer17
NM_020766.3:c.863_867dup	NP_065817.2:p.Gln290SerfsTer17