Canonical Allele Identifier: CA2577909465
Gene: NR1I2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.119811459_119811460del , CM000665.2:g.119811459_119811460del GRCh38
NC_000003.11:g.119530306_119530307del , CM000665.1:g.119530306_119530307del GRCh37
NC_000003.10:g.121012996_121012997del NCBI36
NG_011856.1:g.35976_35977del

Transcript Alleles

HGVS Amino-acid Change
ENST00000393716.8:c.332-80_332-79del MANE Select ENSP00000377319.3:n.332-80_332-79del
ENST00000466380.6:c.332-80_332-79del ENSP00000420297.2:n.332-80_332-79del
ENST00000337940.4:c.449-80_449-79del ENSP00000336528.4:n.449-80_449-79del
ENST00000393716.6:c.332-80_332-79del ENSP00000377319.2:n.332-80_332-79del
ENST00000466380.5:c.332-80_332-79del ENSP00000420297.1:n.332-80_332-79del
ENST00000493757.1:n.384_385del
NM_003889.3:c.332-80_332-79del NP_003880.3:n.332-80_332-79del
NM_022002.2:c.449-80_449-79del NP_071285.1:n.449-80_449-79del
NM_033013.2:c.332-80_332-79del NP_148934.1:n.332-80_332-79del
NM_003889.4:c.332-80_332-79del MANE Select NP_003880.3:n.332-80_332-79del
NM_022002.3:c.449-80_449-79del NP_071285.1:n.449-80_449-79del
NM_033013.3:c.332-80_332-79del NP_148934.1:n.332-80_332-79del