Canonical Allele Identifier: CA2335961847
Community Standard Title: NM_181882.3(PRX):c.1552_1558del (p.Pro518TyrfsTer4)
Gene: PRX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.40396794_40396800del , CM000681.2:g.40396794_40396800del GRCh38
NC_000019.9:g.40902701_40902707del , CM000681.1:g.40902701_40902707del GRCh37
NC_000019.8:g.45594541_45594547del NCBI36
NG_007979.1:g.21565_21571del , LRG_265:g.21565_21571del

Transcript Alleles

HGVS Amino-acid Change
NM_181882.3:c.1552_1558del MANE Select NP_870998.2:p.Pro518TyrfsTer4
ENST00000324001.8:c.1552_1558del MANE Select ENSP00000326018.6:p.Pro518TyrfsTer4
NM_020956.2:c.*1757_*1763del , LRG_265t1:c.*1757_*1763del NP_066007.1:n.*1757_*1763del
NM_181882.2:c.1552_1558del , LRG_265t2:c.1552_1558del NP_870998.2:p.Pro518TyrfsTer4
ENST00000291825.11:c.*1757_*1763del ENSP00000291825.6:n.*1757_*1763del
ENST00000324001.7:c.1552_1558del ENSP00000326018.6:p.Pro518TyrfsTer4
ENST00000673881.1:c.1135_1141del ENSP00000501070.1:p.Pro379TyrfsTer4
ENST00000674005.2:c.1837_1843del ENSP00000501261.1:p.Pro613TyrfsTer4
ENST00000674773.1:c.1135_1141del ENSP00000502579.1:p.Pro379TyrfsTer4
ENST00000675517.1:c.1427_1433del
ENST00000676076.1:c.1413_1419del
ENST00000676260.1:c.1514_1520del
ENST00000676316.1:c.1439_1445del
XM_011527171.1:c.1552_1558del XP_011525473.1:p.Pro518TyrfsTer4
XM_011527171.2:c.1552_1558del XP_011525473.1:p.Pro518TyrfsTer4
XM_017027046.1:c.1450_1456del XP_016882535.1:p.Pro484TyrfsTer4
XM_017027047.1:c.1450_1456del XP_016882536.1:p.Pro484TyrfsTer4