Canonical Allele Identifier: CA2422039220
Gene: NR0B1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30304757_30304761delinsCTGAG , CM000685.2:g.30304757_30304761delinsCTGAG GRCh38
NC_000023.10:g.30322874_30322878delinsCTGAG , CM000685.1:g.30322874_30322878delinsCTGAG GRCh37
NC_000023.9:g.30232795_30232799delinsCTGAG NCBI36
NG_009814.1:g.9618_9622delinsCTCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.1231_1235delinsCTCAG MANE Select ENSP00000368253.4:p.Leu411=
ENST00000378970.4:c.1231_1235delinsCTCAG ENSP00000368253.4:p.Leu411=
NM_000475.4:c.1231_1235delinsCTCAG NP_000466.2:p.Leu411=
NM_000475.5:c.1231_1235delinsCTCAG MANE Select NP_000466.2:p.Leu411=
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