Canonical Allele Identifier: CA1139666446
Community Standard Title: NM_181882.3(PRX):c.1490_1491delinsTG (p.Pro497Leu)
Gene: PRX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.40396861_40396862delinsCA , CM000681.2:g.40396861_40396862delinsCA GRCh38
NC_000019.9:g.40902768_40902769delinsCA , CM000681.1:g.40902768_40902769delinsCA GRCh37
NC_000019.8:g.45594608_45594609delinsCA NCBI36
NG_007979.1:g.21503_21504delinsTG , LRG_265:g.21503_21504delinsTG

Transcript Alleles

HGVS Amino-acid Change
NM_181882.3:c.1490_1491delinsTG MANE Select NP_870998.2:p.Pro497Leu
ENST00000324001.8:c.1490_1491delinsTG MANE Select ENSP00000326018.6:p.Pro497Leu
NM_020956.2:c.*1695_*1696delinsTG , LRG_265t1:c.*1695_*1696delinsTG NP_066007.1:n.*1695_*1696delinsTG
NM_181882.2:c.1490_1491delinsTG , LRG_265t2:c.1490_1491delinsTG NP_870998.2:p.Pro497Leu
ENST00000291825.11:c.*1695_*1696delinsTG ENSP00000291825.6:n.*1695_*1696delinsTG
ENST00000324001.7:c.1490_1491delinsTG ENSP00000326018.6:p.Pro497Leu
ENST00000673881.1:c.1073_1074delinsTG ENSP00000501070.1:p.Pro358Leu
ENST00000674005.2:c.1775_1776delinsTG ENSP00000501261.1:p.Pro592Leu
ENST00000674773.1:c.1073_1074delinsTG ENSP00000502579.1:p.Pro358Leu
ENST00000675517.1:c.1365_1366delinsTG
ENST00000676076.1:c.1351_1352delinsTG
ENST00000676260.1:c.1452_1453delinsTG
ENST00000676316.1:c.1377_1378delinsTG
XM_011527171.1:c.1490_1491delinsTG XP_011525473.1:p.Pro497Leu
XM_011527171.2:c.1490_1491delinsTG XP_011525473.1:p.Pro497Leu
XM_017027046.1:c.1388_1389delinsTG XP_016882535.1:p.Pro463Leu
XM_017027047.1:c.1388_1389delinsTG XP_016882536.1:p.Pro463Leu