Canonical Allele Identifier: CA263215

Gene: PRRX1

Linked Data

• ClinVar Variation Id: 50497
• ClinVar RCV Id: RCV000043530
• dbSNP Id: rs398122375
• MyVariant Identifiers: chr1:g.170688891_170688894dupAAAA (hg19) ; chr1:g.170719750_170719753dupAAAA (hg38)
• PubMed: PMID:23444262

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.170719750_170719753dup , CM000663.2:g.170719750_170719753dup	GRCh38
NC_000001.10:g.170688891_170688894dup , CM000663.1:g.170688891_170688894dup	GRCh37
NC_000001.9:g.168955515_168955518dup	NCBI36
NG_031856.2:g.60579_60582dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239461.11:c.266_269dup MANE Select	ENSP00000239461.6:p.Arg92GlufsTer8
ENST00000239461.10:c.266_269dup	ENSP00000239461.6:p.Arg92GlufsTer8
ENST00000367760.7:c.266_269dup	ENSP00000356734.3:p.Arg92GlufsTer8
ENST00000497230.2:c.266_269dup	ENSP00000450762.1:p.Arg92GlufsTer8
ENST00000553786.1:n.376_379dup
NM_006902.4:c.266_269dup	NP_008833.1:p.Arg92GlufsTer8
NM_022716.3:c.266_269dup	NP_073207.1:p.Arg92GlufsTer8
XM_006711388.2:c.125_128dup	XP_006711451.1:p.Arg45GlufsTer8
XM_006711388.3:c.125_128dup	XP_006711451.1:p.Arg45GlufsTer8
NM_022716.4:c.266_269dup MANE Select	NP_073207.1:p.Arg92GlufsTer8
NM_006902.5:c.266_269dup	NP_008833.1:p.Arg92GlufsTer8