Canonical Allele Identifier: CA2573159045

Gene: PCDH19

Linked Data

• ClinVar Variation Id: 1394677
• ClinVar RCV Id: RCV001898593
• dbSNP Id: rs2147540261

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.100407715del , CM000685.2:g.100407715del	GRCh38
NC_000023.10:g.99662713del , CM000685.1:g.99662713del	GRCh37
NC_000023.9:g.99549369del	NCBI36
NG_021319.1:g.7559del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255531.8:c.883del	ENSP00000255531.7:p.Ser295ValfsTer10
ENST00000373034.8:c.883del MANE Select	ENSP00000362125.4:p.Ser295ValfsTer10
ENST00000420881.6:c.883del	ENSP00000400327.2:p.Ser295ValfsTer10
NM_001105243.1:c.883del	NP_001098713.1:p.Ser295ValfsTer10
NM_001184880.1:c.883del	NP_001171809.1:p.Ser295ValfsTer10
NM_020766.2:c.883del	NP_065817.2:p.Ser295ValfsTer10
XM_011530997.1:c.883del	XP_011529299.1:p.Ser295ValfsTer10
XM_011530997.2:c.883del	XP_011529299.1:p.Ser295ValfsTer10
NM_001105243.2:c.883del	NP_001098713.1:p.Ser295ValfsTer10
NM_001184880.2:c.883del MANE Select	NP_001171809.1:p.Ser295ValfsTer10
NM_020766.3:c.883del	NP_065817.2:p.Ser295ValfsTer10