Canonical Allele Identifier: CA2667141653

Gene: NR1I2

Linked Data

• gnomAD v4: 3-119807365-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119807368del , CM000665.2:g.119807368del	GRCh38
NC_000003.11:g.119526215del , CM000665.1:g.119526215del	GRCh37
NC_000003.10:g.121008905del	NCBI36
NG_011856.1:g.31885del

Transcript Alleles

HGVS	Amino-acid change
ENST00000393716.8:c.118del MANE Select	ENSP00000377319.3:p.Ile40SerfsTer17
ENST00000466380.6:c.118del	ENSP00000420297.2:p.Ile40SerfsTer17
ENST00000648112.1:c.*141del	ENSP00000497876.1:n.*141del
ENST00000337940.4:c.235del	ENSP00000336528.4:p.Ile79SerfsTer17
ENST00000393716.6:c.118del	ENSP00000377319.2:p.Ile40SerfsTer17
ENST00000466380.5:c.118del	ENSP00000420297.1:p.Ile40SerfsTer17
ENST00000474090.1:n.406del
NM_003889.3:c.118del	NP_003880.3:p.Ile40SerfsTer17
NM_022002.2:c.235del	NP_071285.1:p.Ile79SerfsTer17
NM_033013.2:c.118del	NP_148934.1:p.Ile40SerfsTer17
NM_003889.4:c.118del MANE Select	NP_003880.3:p.Ile40SerfsTer17
NM_022002.3:c.235del	NP_071285.1:p.Ile79SerfsTer17
NM_033013.3:c.118del	NP_148934.1:p.Ile40SerfsTer17