Canonical Allele Identifier: CA2814403767
Gene: PRX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.40396219del , CM000681.2:g.40396219del GRCh38
NC_000019.9:g.40902126del , CM000681.1:g.40902126del GRCh37
NC_000019.8:g.45593966del NCBI36
NG_007979.1:g.22146del , LRG_265:g.22146del

Transcript Alleles

HGVS Amino-acid Change
ENST00000324001.8:c.2133del MANE Select ENSP00000326018.6:p.Val714SerfsTer4
ENST00000673881.1:c.1716del ENSP00000501070.1:p.Val575SerfsTer4
ENST00000674005.2:c.2418del ENSP00000501261.1:p.Val809SerfsTer4
ENST00000674773.1:c.1716del ENSP00000502579.1:p.Val575SerfsTer4
ENST00000675517.1:c.2008del
ENST00000676076.1:c.1994del
ENST00000676260.1:c.2095del
ENST00000676316.1:c.2020del
ENST00000291825.11:c.*2338del ENSP00000291825.6:n.*2338del
ENST00000324001.7:c.2133del ENSP00000326018.6:p.Val714SerfsTer4
NM_020956.2:c.*2338del , LRG_265t1:c.*2338del NP_066007.1:n.*2338del
NM_181882.2:c.2133del , LRG_265t2:c.2133del NP_870998.2:p.Val714SerfsTer4
XM_011527171.1:c.2133del XP_011525473.1:p.Val714SerfsTer4
XM_011527171.2:c.2133del XP_011525473.1:p.Val714SerfsTer4
XM_017027046.1:c.2031del XP_016882535.1:p.Val680SerfsTer4
XM_017027047.1:c.2031del XP_016882536.1:p.Val680SerfsTer4
NM_181882.3:c.2133del MANE Select NP_870998.2:p.Val714SerfsTer4