Canonical Allele Identifier: CA316405

Gene: PCDH19

Linked Data

• ClinVar Variation Id: 206356
• ClinVar RCV Id: RCV000188393
• dbSNP Id: rs796052832
• MyVariant Identifiers: chrX:g.99661900_99661913del (hg19) ; chrX:g.100406902_100406915del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.100406905_100406918del , CM000685.2:g.100406905_100406918del	GRCh38
NC_000023.10:g.99661903_99661916del , CM000685.1:g.99661903_99661916del	GRCh37
NC_000023.9:g.99548559_99548572del	NCBI36
NG_021319.1:g.8359_8372del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255531.8:c.1683_1696del	ENSP00000255531.7:p.Val562ThrfsTer4
ENST00000373034.8:c.1683_1696del MANE Select	ENSP00000362125.4:p.Val562ThrfsTer4
ENST00000420881.6:c.1683_1696del	ENSP00000400327.2:p.Val562ThrfsTer4
NM_001105243.1:c.1683_1696del	NP_001098713.1:p.Val562ThrfsTer4
NM_001184880.1:c.1683_1696del	NP_001171809.1:p.Val562ThrfsTer4
NM_020766.2:c.1683_1696del	NP_065817.2:p.Val562ThrfsTer4
XM_011530997.1:c.1683_1696del	XP_011529299.1:p.Val562ThrfsTer4
XM_011530997.2:c.1683_1696del	XP_011529299.1:p.Val562ThrfsTer4
NM_001105243.2:c.1683_1696del	NP_001098713.1:p.Val562ThrfsTer4
NM_001184880.2:c.1683_1696del MANE Select	NP_001171809.1:p.Val562ThrfsTer4
NM_020766.3:c.1683_1696del	NP_065817.2:p.Val562ThrfsTer4