Canonical Allele Identifier: CA2585127081

Gene: PRX

Linked Data

• gnomAD v4: 19-40396152-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40396153del , CM000681.2:g.40396153del	GRCh38
NC_000019.9:g.40902060del , CM000681.1:g.40902060del	GRCh37
NC_000019.8:g.45593900del	NCBI36
NG_007979.1:g.22212del , LRG_265:g.22212del

Transcript Alleles

HGVS	Amino-acid change
ENST00000324001.8:c.2199del MANE Select	ENSP00000326018.6:p.Glu734ArgfsTer?
ENST00000673881.1:c.1782del	ENSP00000501070.1:p.Glu595ArgfsTer?
ENST00000674005.2:c.2484del	ENSP00000501261.1:p.Glu829ArgfsTer?
ENST00000674773.1:c.1782del	ENSP00000502579.1:p.Glu595ArgfsTer?
ENST00000675517.1:c.2074del
ENST00000676076.1:c.2060del
ENST00000676260.1:c.2161del
ENST00000676316.1:c.2086del
ENST00000291825.11:c.*2404del	ENSP00000291825.6:n.*2404del
ENST00000324001.7:c.2199del	ENSP00000326018.6:p.Glu734ArgfsTer?
NM_020956.2:c.*2404del , LRG_265t1:c.*2404del	NP_066007.1:n.*2404del
NM_181882.2:c.2199del , LRG_265t2:c.2199del	NP_870998.2:p.Glu734ArgfsTer?
XM_011527171.1:c.2199del	XP_011525473.1:p.Glu734ArgfsTer?
XM_011527171.2:c.2199del	XP_011525473.1:p.Glu734ArgfsTer?
XM_017027046.1:c.2097del	XP_016882535.1:p.Glu700ArgfsTer?
XM_017027047.1:c.2097del	XP_016882536.1:p.Glu700ArgfsTer?
NM_181882.3:c.2199del MANE Select	NP_870998.2:p.Glu734ArgfsTer?