Canonical Allele Identifier: CA2585127082

Gene: PRX

Linked Data

• gnomAD v4: 19-40396159-C-CTAATCATTTTGGATTTCTTCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40396160_40396161insAATCATTTTGGATTTCTTCCTT , CM000681.2:g.40396160_40396161insAATCATTTTGGATTTCTTCCTT	GRCh38
NC_000019.9:g.40902067_40902068insAATCATTTTGGATTTCTTCCTT , CM000681.1:g.40902067_40902068insAATCATTTTGGATTTCTTCCTT	GRCh37
NC_000019.8:g.45593907_45593908insAATCATTTTGGATTTCTTCCTT	NCBI36
NG_007979.1:g.22205_22206insAGGAAGAAATCCAAAATGATTA , LRG_265:g.22205_22206insAGGAAGAAATCCAAAATGATTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000324001.8:c.2192_2193insAGGAAGAAATCCAAAATGATTA MANE Select	ENSP00000326018.6:p.Val732GlyfsTer6
ENST00000673881.1:c.1775_1776insAGGAAGAAATCCAAAATGATTA	ENSP00000501070.1:p.Val593GlyfsTer6
ENST00000674005.2:c.2477_2478insAGGAAGAAATCCAAAATGATTA	ENSP00000501261.1:p.Val827GlyfsTer6
ENST00000674773.1:c.1775_1776insAGGAAGAAATCCAAAATGATTA	ENSP00000502579.1:p.Val593GlyfsTer6
ENST00000675517.1:c.2067_2068insAGGAAGAAATCCAAAATGATTA
ENST00000676076.1:c.2053_2054insAGGAAGAAATCCAAAATGATTA
ENST00000676260.1:c.2154_2155insAGGAAGAAATCCAAAATGATTA
ENST00000676316.1:c.2079_2080insAGGAAGAAATCCAAAATGATTA
ENST00000291825.11:c.*2397_*2398insAGGAAGAAATCCAAAATGATTA	ENSP00000291825.6:n.*2397_*2398insAGGAAGAAATCCAAAATGATTA
ENST00000324001.7:c.2192_2193insAGGAAGAAATCCAAAATGATTA	ENSP00000326018.6:p.Val732GlyfsTer6
NM_020956.2:c.*2397_*2398insAGGAAGAAATCCAAAATGATTA , LRG_265t1:c.*2397_*2398insAGGAAGAAATCCAAAATGATTA	NP_066007.1:n.*2397_*2398insAGGAAGAAATCCAAAATGATTA
NM_181882.2:c.2192_2193insAGGAAGAAATCCAAAATGATTA , LRG_265t2:c.2192_2193insAGGAAGAAATCCAAAATGATTA	NP_870998.2:p.Val732GlyfsTer6
XM_011527171.1:c.2192_2193insAGGAAGAAATCCAAAATGATTA	XP_011525473.1:p.Val732GlyfsTer6
XM_011527171.2:c.2192_2193insAGGAAGAAATCCAAAATGATTA	XP_011525473.1:p.Val732GlyfsTer6
XM_017027046.1:c.2090_2091insAGGAAGAAATCCAAAATGATTA	XP_016882535.1:p.Val698GlyfsTer6
XM_017027047.1:c.2090_2091insAGGAAGAAATCCAAAATGATTA	XP_016882536.1:p.Val698GlyfsTer6
NM_181882.3:c.2192_2193insAGGAAGAAATCCAAAATGATTA MANE Select	NP_870998.2:p.Val732GlyfsTer6