Canonical Allele Identifier: CA2739276801

Gene: PRX

Linked Data

• ClinVar Variation Id: 2777990
• ClinVar RCV Id: RCV003745646

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40396172_40396173del , CM000681.2:g.40396172_40396173del	GRCh38
NC_000019.9:g.40902079_40902080del , CM000681.1:g.40902079_40902080del	GRCh37
NC_000019.8:g.45593919_45593920del	NCBI36
NG_007979.1:g.22193_22194del , LRG_265:g.22193_22194del

Transcript Alleles

HGVS	Amino-acid change
ENST00000324001.8:c.2180_2181del MANE Select	ENSP00000326018.6:p.Ile727LysfsTer7
ENST00000673881.1:c.1763_1764del	ENSP00000501070.1:p.Ile588LysfsTer7
ENST00000674005.2:c.2465_2466del	ENSP00000501261.1:p.Ile822LysfsTer7
ENST00000674773.1:c.1763_1764del	ENSP00000502579.1:p.Ile588LysfsTer7
ENST00000675517.1:c.2055_2056del
ENST00000676076.1:c.2041_2042del
ENST00000676260.1:c.2142_2143del
ENST00000676316.1:c.2067_2068del
ENST00000291825.11:c.*2385_*2386del	ENSP00000291825.6:n.*2385_*2386del
ENST00000324001.7:c.2180_2181del	ENSP00000326018.6:p.Ile727LysfsTer7
NM_020956.2:c.*2385_*2386del , LRG_265t1:c.*2385_*2386del	NP_066007.1:n.*2385_*2386del
NM_181882.2:c.2180_2181del , LRG_265t2:c.2180_2181del	NP_870998.2:p.Ile727LysfsTer7
XM_011527171.1:c.2180_2181del	XP_011525473.1:p.Ile727LysfsTer7
XM_011527171.2:c.2180_2181del	XP_011525473.1:p.Ile727LysfsTer7
XM_017027046.1:c.2078_2079del	XP_016882535.1:p.Ile693LysfsTer7
XM_017027047.1:c.2078_2079del	XP_016882536.1:p.Ile693LysfsTer7
NM_181882.3:c.2180_2181del MANE Select	NP_870998.2:p.Ile727LysfsTer7