Canonical Allele Identifier: CA645294133

Gene: PCDH19

Linked Data

• ClinVar Variation Id: 426961
• ClinVar RCV Id: RCV000489321 ; RCV001242648
• dbSNP Id: rs1085307873
• MyVariant Identifiers: chrX:g.99662174_99662177del (hg19) ; chrX:g.100407176_100407179del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.100407178_100407181del , CM000685.2:g.100407178_100407181del	GRCh38
NC_000023.10:g.99662176_99662179del , CM000685.1:g.99662176_99662179del	GRCh37
NC_000023.9:g.99548832_99548835del	NCBI36
NG_021319.1:g.8095_8098del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255531.8:c.1419_1422del	ENSP00000255531.7:p.Ser474CysfsTer?
ENST00000373034.8:c.1419_1422del MANE Select	ENSP00000362125.4:p.Ser474CysfsTer?
ENST00000420881.6:c.1419_1422del	ENSP00000400327.2:p.Ser474CysfsTer?
NM_001105243.1:c.1419_1422del	NP_001098713.1:p.Ser474CysfsTer?
NM_001184880.1:c.1419_1422del	NP_001171809.1:p.Ser474CysfsTer?
NM_020766.2:c.1419_1422del	NP_065817.2:p.Ser474CysfsTer?
XM_011530997.1:c.1419_1422del	XP_011529299.1:p.Ser474CysfsTer?
XM_011530997.2:c.1419_1422del	XP_011529299.1:p.Ser474CysfsTer?
NM_001105243.2:c.1419_1422del	NP_001098713.1:p.Ser474CysfsTer?
NM_001184880.2:c.1419_1422del MANE Select	NP_001171809.1:p.Ser474CysfsTer?
NM_020766.3:c.1419_1422del	NP_065817.2:p.Ser474CysfsTer?