Canonical Allele Identifier: CA2577909382
Gene: NR1I2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.119807200_119807201del , CM000665.2:g.119807200_119807201del GRCh38
NC_000003.11:g.119526047_119526048del , CM000665.1:g.119526047_119526048del GRCh37
NC_000003.10:g.121008737_121008738del NCBI36
NG_011856.1:g.31717_31718del

Transcript Alleles

HGVS Amino-acid Change
ENST00000393716.8:c.-22-29_-22-28del MANE Select ENSP00000377319.3:n.-22-29_-22-28del
ENST00000466380.6:c.-22-29_-22-28del ENSP00000420297.2:n.-22-29_-22-28del
ENST00000648112.1:c.*2-29_*2-28del ENSP00000497876.1:n.*2-29_*2-28del
ENST00000337940.4:c.96-29_96-28del ENSP00000336528.4:n.96-29_96-28del
ENST00000393716.6:c.-22-29_-22-28del ENSP00000377319.2:n.-22-29_-22-28del
ENST00000466380.5:c.-22-29_-22-28del ENSP00000420297.1:n.-22-29_-22-28del
ENST00000474090.1:n.267-29_267-28del
NM_003889.3:c.-22-29_-22-28del NP_003880.3:n.-22-29_-22-28del
NM_022002.2:c.96-29_96-28del NP_071285.1:n.96-29_96-28del
NM_033013.2:c.-22-29_-22-28del NP_148934.1:n.-22-29_-22-28del
NM_003889.4:c.-22-29_-22-28del MANE Select NP_003880.3:n.-22-29_-22-28del
NM_022002.3:c.96-29_96-28del NP_071285.1:n.96-29_96-28del
NM_033013.3:c.-22-29_-22-28del NP_148934.1:n.-22-29_-22-28del