Canonical Allele Identifier: CA2667144407
Gene: NR1I2 HGNC NCBI

Linked Data

gnomAD v4: 3-119817748-TG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.119817751del , CM000665.2:g.119817751del GRCh38
NC_000003.11:g.119536598del , CM000665.1:g.119536598del GRCh37
NC_000003.10:g.121019288del NCBI36
NG_011856.1:g.42268del

Transcript Alleles

HGVS Amino-acid Change
ENST00000393716.8:c.*539del MANE Select ENSP00000377319.3:n.*539del
ENST00000466380.6:c.*539del ENSP00000420297.2:n.*539del
ENST00000337940.4:c.*539del ENSP00000336528.4:n.*539del
ENST00000393716.6:c.*539del ENSP00000377319.2:n.*539del
ENST00000466380.5:c.*539del ENSP00000420297.1:n.*539del
ENST00000493757.1:n.1976del
NM_003889.3:c.*539del NP_003880.3:n.*539del
NM_022002.2:c.*539del NP_071285.1:n.*539del
NM_033013.2:c.*539del NP_148934.1:n.*539del
NM_003889.4:c.*539del MANE Select NP_003880.3:n.*539del
NM_022002.3:c.*539del NP_071285.1:n.*539del
NM_033013.3:c.*539del NP_148934.1:n.*539del
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