Canonical Allele Identifier: CA645369810

Gene: PCDH19

Linked Data

• ClinVar Variation Id: 429878
• ClinVar RCV Id: RCV000494683
• dbSNP Id: rs1131691646
• MyVariant Identifiers: chrX:g.99662075del (hg19) ; chrX:g.100407077del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.100407078del , CM000685.2:g.100407078del	GRCh38
NC_000023.10:g.99662076del , CM000685.1:g.99662076del	GRCh37
NC_000023.9:g.99548732del	NCBI36
NG_021319.1:g.8197del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255531.8:c.1521del	ENSP00000255531.7:p.Ile508SerfsTer?
ENST00000373034.8:c.1521del MANE Select	ENSP00000362125.4:p.Ile508SerfsTer?
ENST00000420881.6:c.1521del	ENSP00000400327.2:p.Ile508SerfsTer?
NM_001105243.1:c.1521del	NP_001098713.1:p.Ile508SerfsTer?
NM_001184880.1:c.1521del	NP_001171809.1:p.Ile508SerfsTer?
NM_020766.2:c.1521del	NP_065817.2:p.Ile508SerfsTer?
XM_011530997.1:c.1521del	XP_011529299.1:p.Ile508SerfsTer?
XM_011530997.2:c.1521del	XP_011529299.1:p.Ile508SerfsTer?
NM_001105243.2:c.1521del	NP_001098713.1:p.Ile508SerfsTer?
NM_001184880.2:c.1521del MANE Select	NP_001171809.1:p.Ile508SerfsTer?
NM_020766.3:c.1521del	NP_065817.2:p.Ile508SerfsTer?