Canonical Allele Identifier: CA2576785599
Gene: PRX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.40396214_40396215del , CM000681.2:g.40396214_40396215del GRCh38
NC_000019.9:g.40902121_40902122del , CM000681.1:g.40902121_40902122del GRCh37
NC_000019.8:g.45593961_45593962del NCBI36
NG_007979.1:g.22151_22152del , LRG_265:g.22151_22152del

Transcript Alleles

HGVS Amino-acid change
ENST00000324001.8:c.2138_2139del MANE Select ENSP00000326018.6:p.Lys713SerfsTer3
ENST00000673881.1:c.1721_1722del ENSP00000501070.1:p.Lys574SerfsTer3
ENST00000674005.2:c.2423_2424del ENSP00000501261.1:p.Lys808SerfsTer3
ENST00000674773.1:c.1721_1722del ENSP00000502579.1:p.Lys574SerfsTer3
ENST00000675517.1:c.2013_2014del
ENST00000676076.1:c.1999_2000del
ENST00000676260.1:c.2100_2101del
ENST00000676316.1:c.2025_2026del
ENST00000291825.11:c.*2343_*2344del ENSP00000291825.6:n.*2343_*2344del
ENST00000324001.7:c.2138_2139del ENSP00000326018.6:p.Lys713SerfsTer3
NM_020956.2:c.*2343_*2344del , LRG_265t1:c.*2343_*2344del NP_066007.1:n.*2343_*2344del
NM_181882.2:c.2138_2139del , LRG_265t2:c.2138_2139del NP_870998.2:p.Lys713SerfsTer3
XM_011527171.1:c.2138_2139del XP_011525473.1:p.Lys713SerfsTer3
XM_011527171.2:c.2138_2139del XP_011525473.1:p.Lys713SerfsTer3
XM_017027046.1:c.2036_2037del XP_016882535.1:p.Lys679SerfsTer3
XM_017027047.1:c.2036_2037del XP_016882536.1:p.Lys679SerfsTer3
NM_181882.3:c.2138_2139del MANE Select NP_870998.2:p.Lys713SerfsTer3