Canonical Allele Identifier: CA316400

Gene: PCDH19

Linked Data

• ClinVar Variation Id: 206350
• ClinVar RCV Id: RCV000188387 ; RCV001389178
• dbSNP Id: rs796052827
• MyVariant Identifiers: chrX:g.99662791del (hg19) ; chrX:g.100407793del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.100407793del , CM000685.2:g.100407793del	GRCh38
NC_000023.10:g.99662791del , CM000685.1:g.99662791del	GRCh37
NC_000023.9:g.99549447del	NCBI36
NG_021319.1:g.7481del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255531.8:c.805del	ENSP00000255531.7:p.Thr269ProfsTer?
ENST00000373034.8:c.805del MANE Select	ENSP00000362125.4:p.Thr269ProfsTer?
ENST00000420881.6:c.805del	ENSP00000400327.2:p.Thr269ProfsTer?
NM_001105243.1:c.805del	NP_001098713.1:p.Thr269ProfsTer?
NM_001184880.1:c.805del	NP_001171809.1:p.Thr269ProfsTer?
NM_020766.2:c.805del	NP_065817.2:p.Thr269ProfsTer?
XM_011530997.1:c.805del	XP_011529299.1:p.Thr269ProfsTer?
XM_011530997.2:c.805del	XP_011529299.1:p.Thr269ProfsTer?
NM_001105243.2:c.805del	NP_001098713.1:p.Thr269ProfsTer?
NM_001184880.2:c.805del MANE Select	NP_001171809.1:p.Thr269ProfsTer?
NM_020766.3:c.805del	NP_065817.2:p.Thr269ProfsTer?