Canonical Allele Identifier: CA1396723458
Gene: NR1I2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.119807268_119807269delinsAG , CM000665.2:g.119807268_119807269delinsAG GRCh38
NC_000003.11:g.119526115_119526116delinsAG , CM000665.1:g.119526115_119526116delinsAG GRCh37
NC_000003.10:g.121008805_121008806delinsAG NCBI36
NG_011856.1:g.31785_31786delinsAG

Transcript Alleles

HGVS Amino-acid change
ENST00000393716.8:c.18_19delinsAG MANE Select ENSP00000377319.3:p.Lys6=
ENST00000466380.6:c.18_19delinsAG ENSP00000420297.2:p.Lys6=
ENST00000648112.1:c.*41_*42delinsAG ENSP00000497876.1:n.*41_*42delinsAG
ENST00000337940.4:c.135_136delinsAG ENSP00000336528.4:p.Lys45=
ENST00000393716.6:c.18_19delinsAG ENSP00000377319.2:p.Lys6=
ENST00000466380.5:c.18_19delinsAG ENSP00000420297.1:p.Lys6=
ENST00000474090.1:n.306_307delinsAG
NM_003889.3:c.18_19delinsAG NP_003880.3:p.Lys6=
NM_022002.2:c.135_136delinsAG NP_071285.1:p.Lys45=
NM_033013.2:c.18_19delinsAG NP_148934.1:p.Lys6=
NM_003889.4:c.18_19delinsAG MANE Select NP_003880.3:p.Lys6=
NM_022002.3:c.135_136delinsAG NP_071285.1:p.Lys45=
NM_033013.3:c.18_19delinsAG NP_148934.1:p.Lys6=