Canonical Allele Identifier: CA2580097269

Gene: PRX

Linked Data

• ClinVar Variation Id: 2133305
• ClinVar RCV Id: RCV003056258

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40396258_40396521dup , CM000681.2:g.40396258_40396521dup	GRCh38
NC_000019.9:g.40902165_40902428dup , CM000681.1:g.40902165_40902428dup	GRCh37
NC_000019.8:g.45594005_45594268dup	NCBI36
NG_007979.1:g.21873_22136dup , LRG_265:g.21873_22136dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000324001.8:c.1860_2123dup MANE Select	ENSP00000326018.6:p.Glu708_Val709insValGl...
ENST00000673881.1:c.1443_1706dup	ENSP00000501070.1:p.Glu569_Val570insValGl...
ENST00000674005.2:c.2145_2408dup	ENSP00000501261.1:p.Glu803_Val804insValGl...
ENST00000674773.1:c.1443_1706dup	ENSP00000502579.1:p.Glu569_Val570insValGl...
ENST00000675517.1:c.1735_1998dup
ENST00000676076.1:c.1721_1984dup
ENST00000676260.1:c.1822_2085dup
ENST00000676316.1:c.1747_2010dup
ENST00000291825.11:c.*2065_*2328dup	ENSP00000291825.6:n.*2065_*2328dup
ENST00000324001.7:c.1860_2123dup	ENSP00000326018.6:p.Glu708_Val709insValGl...
NM_020956.2:c.*2065_*2328dup , LRG_265t1:c.*2065_*2328dup	NP_066007.1:n.*2065_*2328dup
NM_181882.2:c.1860_2123dup , LRG_265t2:c.1860_2123dup	NP_870998.2:p.Glu708_Val709insValGlnLeuPr...
XM_011527171.1:c.1860_2123dup	XP_011525473.1:p.Glu708_Val709insValGlnLe...
XM_011527171.2:c.1860_2123dup	XP_011525473.1:p.Glu708_Val709insValGlnLe...
XM_017027046.1:c.1758_2021dup	XP_016882535.1:p.Glu674_Val675insValGlnLe...
XM_017027047.1:c.1758_2021dup	XP_016882536.1:p.Glu674_Val675insValGlnLe...
NM_181882.3:c.1860_2123dup MANE Select	NP_870998.2:p.Glu708_Val709insValGlnLeuPr...