Canonical Allele Identifier: CA897898261
Gene: NR1I2 HGNC NCBI

Linked Data

dbSNP Id: rs1472633809

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.119817646_119817651del , CM000665.2:g.119817646_119817651del GRCh38
NC_000003.11:g.119536493_119536498del , CM000665.1:g.119536493_119536498del GRCh37
NC_000003.10:g.121019183_121019188del NCBI36
NG_011856.1:g.42163_42168del

Transcript Alleles

HGVS Amino-acid Change
ENST00000393716.8:c.*434_*439del MANE Select ENSP00000377319.3:n.*434_*439del
ENST00000466380.6:c.*434_*439del ENSP00000420297.2:n.*434_*439del
ENST00000337940.4:c.*434_*439del ENSP00000336528.4:n.*434_*439del
ENST00000393716.6:c.*434_*439del ENSP00000377319.2:n.*434_*439del
ENST00000466380.5:c.*434_*439del ENSP00000420297.1:n.*434_*439del
ENST00000493757.1:n.1871_1876del
NM_003889.3:c.*434_*439del NP_003880.3:n.*434_*439del
NM_022002.2:c.*434_*439del NP_071285.1:n.*434_*439del
NM_033013.2:c.*434_*439del NP_148934.1:n.*434_*439del
NM_003889.4:c.*434_*439del MANE Select NP_003880.3:n.*434_*439del
NM_022002.3:c.*434_*439del NP_071285.1:n.*434_*439del
NM_033013.3:c.*434_*439del NP_148934.1:n.*434_*439del