Canonical Allele Identifier: CA2499224303
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.40093325dup , CM000679.2:g.40093325dup GRCh38
NC_000017.10:g.38249578dup , CM000679.1:g.38249578dup GRCh37
NC_000017.9:g.35503104dup NCBI36
NG_023345.1:g.36133dup
NG_033084.1:g.12402dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000246672.4:c.1646-42dup (NR1D1) MANE Select ENSP00000246672.3:n.1646-42dup
ENST00000246672.3:c.1646-42dup (NR1D1) ENSP00000246672.3:n.1646-42dup
ENST00000264637.8:c.1416dup (THRA) ENSP00000264637.4:p.Ser473LeufsTer2
ENST00000394121.8:c.1416dup (THRA) ENSP00000377679.4:p.Ser473LeufsTer2
ENST00000584985.5:c.1299dup (THRA) ENSP00000463466.1:p.Ser434LeufsTer2
NM_001190918.1:c.1299dup (THRA) NP_001177847.1:p.Ser434LeufsTer2
NM_001190919.1:c.1416dup (THRA) NP_001177848.1:p.Ser473LeufsTer2
NM_003250.5:c.1416dup (THRA) NP_003241.2:p.Ser473LeufsTer2
NM_021724.4:c.1646-42dup (NR1D1) NP_068370.1:n.1646-42dup
NM_021724.5:c.1646-42dup (NR1D1) MANE Select NP_068370.1:n.1646-42dup
NM_001190918.2:c.1299dup (THRA) NP_001177847.1:p.Ser434LeufsTer2
NM_003250.6:c.1416dup (THRA) NP_003241.2:p.Ser473LeufsTer2
NM_001190919.2:c.1416dup (THRA) NP_001177848.1:p.Ser473LeufsTer2