Canonical Allele Identifier: CA16043631
Gene: RORA HGNC NCBI
RORA-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 374220
ClinVar RCV Id: RCV000415103 RCV000664410
dbSNP Id: rs1057518981
MyVariant Identifiers: chr15:g.60795790del (hg19) chr15:g.60503591del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.60503591del , CM000677.2:g.60503591del GRCh38
NC_000015.9:g.60795790del , CM000677.1:g.60795790del GRCh37
NC_000015.8:g.58583082del NCBI36
NG_029246.1:g.730713del

Transcript Alleles

HGVS Amino-acid change
ENST00000335670.11:c.1019del (RORA) MANE Select ENSP00000335087.6:p.Arg340ProfsTer17
ENST00000261523.9:c.1118del (RORA) ENSP00000261523.5:p.Arg373ProfsTer17
ENST00000309157.8:c.1094del (RORA) ENSP00000309753.3:p.Arg365ProfsTer17
ENST00000335670.10:c.1019del (RORA) ENSP00000335087.6:p.Arg340ProfsTer17
ENST00000449337.6:c.854del (RORA) ENSP00000402971.2:p.Arg285ProfsTer17
NM_002943.3:c.1094del (RORA) NP_002934.1:p.Arg365ProfsTer17
NM_134260.2:c.1118del (RORA) NP_599022.1:p.Arg373ProfsTer17
NM_134261.2:c.1019del (RORA) NP_599023.1:p.Arg340ProfsTer17
NM_134262.2:c.854del (RORA) NP_599024.1:p.Arg285ProfsTer17
NR_120339.1:n.290-6817del (RORA-AS1)
NR_120340.1:n.290-6817del (RORA-AS1)
NR_120341.1:n.222-6817del (RORA-AS1)
NR_120342.1:n.290-6817del (RORA-AS1)
XM_005254584.3:c.881del (RORA) XP_005254641.1:p.Arg294ProfsTer17
XM_011521873.1:c.1028del (RORA) XP_011520175.1:p.Arg343ProfsTer17
XM_011521874.1:c.1025del (RORA) XP_011520176.1:p.Arg342ProfsTer17
XM_011521875.1:c.962del (RORA) XP_011520177.1:p.Arg321ProfsTer17
XM_011521876.1:c.887del (RORA) XP_011520178.1:p.Arg296ProfsTer17
XM_011521877.1:c.851del (RORA) XP_011520179.1:p.Arg284ProfsTer17
XM_011521878.1:c.608del (RORA) XP_011520180.1:p.Arg203ProfsTer17
XM_011521879.1:c.578del (RORA) XP_011520181.1:p.Arg193ProfsTer17
XM_005254584.5:c.881del (RORA) XP_005254641.1:p.Arg294ProfsTer17
XM_011521875.2:c.962del (RORA) XP_011520177.1:p.Arg321ProfsTer17
XM_011521877.3:c.851del (RORA) XP_011520179.1:p.Arg284ProfsTer17
XM_011521878.2:c.608del (RORA) XP_011520180.1:p.Arg203ProfsTer17
XM_011521879.3:c.578del (RORA) XP_011520181.1:p.Arg193ProfsTer17
XM_017022466.2:c.830del (RORA) XP_016877955.1:p.Arg277ProfsTer17
XM_017022467.2:c.608del (RORA) XP_016877956.1:p.Arg203ProfsTer17
NM_134261.3:c.1019del (RORA) MANE Select NP_599023.1:p.Arg340ProfsTer17
NM_134262.3:c.854del (RORA) NP_599024.1:p.Arg285ProfsTer17
NM_002943.4:c.1094del (RORA) NP_002934.1:p.Arg365ProfsTer17
NM_134260.3:c.1118del (RORA) NP_599022.1:p.Arg373ProfsTer17
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