Canonical Allele Identifier: CA343110

Gene: PRX

Linked Data

• ClinVar Variation Id: 38454
• ClinVar RCV Id: RCV000032005 ; RCV000789551 ; RCV002295276
• dbSNP Id: rs281865061
• MyVariant Identifiers: chr19:g.40904661del (hg19) ; chr19:g.40398754del (hg38)
• PubMed: PMID:20301641

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40398755del , CM000681.2:g.40398755del	GRCh38
NC_000019.9:g.40904662del , CM000681.1:g.40904662del	GRCh37
NC_000019.8:g.45596502del	NCBI36
NG_007979.1:g.19611del , LRG_265:g.19611del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324001.8:c.247del MANE Select	ENSP00000326018.6:p.Leu83CysfsTer14
ENST00000673881.1:c.-171del	ENSP00000501070.1:n.-171del
ENST00000674005.2:c.532del	ENSP00000501261.1:p.Leu178CysfsTer14
ENST00000674642.1:n.164del
ENST00000674773.1:c.-36-784del	ENSP00000502579.1:n.-36-784del
ENST00000674978.1:n.294del
ENST00000675300.1:c.158-45del	ENSP00000502008.1:n.158-45del
ENST00000675517.1:c.63del
ENST00000676076.1:c.63del
ENST00000676260.1:c.63del
ENST00000676316.1:c.63del
ENST00000291825.11:c.247del	ENSP00000291825.6:p.Leu83CysfsTer14
ENST00000324001.7:c.247del	ENSP00000326018.6:p.Leu83CysfsTer14
NM_020956.2:c.247del , LRG_265t1:c.247del	NP_066007.1:p.Leu83CysfsTer14
NM_181882.2:c.247del , LRG_265t2:c.247del	NP_870998.2:p.Leu83CysfsTer14
XM_011527171.1:c.247del	XP_011525473.1:p.Leu83CysfsTer14
XM_011527171.2:c.247del	XP_011525473.1:p.Leu83CysfsTer14
XM_017027046.1:c.145del	XP_016882535.1:p.Leu49CysfsTer14
XM_017027047.1:c.145del	XP_016882536.1:p.Leu49CysfsTer14
NM_181882.3:c.247del MANE Select	NP_870998.2:p.Leu83CysfsTer14