Canonical Allele Identifier: CA2667141752

Gene: NR1I2

Linked Data

• gnomAD v4: 3-119807554-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119807557del , CM000665.2:g.119807557del	GRCh38
NC_000003.11:g.119526404del , CM000665.1:g.119526404del	GRCh37
NC_000003.10:g.121009094del	NCBI36
NG_011856.1:g.32074del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393716.8:c.197+110del MANE Select	ENSP00000377319.3:n.197+110del
ENST00000466380.6:c.197+110del	ENSP00000420297.2:n.197+110del
ENST00000648112.1:c.*330del	ENSP00000497876.1:n.*330del
ENST00000337940.4:c.314+110del	ENSP00000336528.4:n.314+110del
ENST00000393716.6:c.197+110del	ENSP00000377319.2:n.197+110del
ENST00000466380.5:c.197+110del	ENSP00000420297.1:n.197+110del
ENST00000474090.1:n.485+110del
NM_003889.3:c.197+110del	NP_003880.3:n.197+110del
NM_022002.2:c.314+110del	NP_071285.1:n.314+110del
NM_033013.2:c.197+110del	NP_148934.1:n.197+110del
NM_003889.4:c.197+110del MANE Select	NP_003880.3:n.197+110del
NM_022002.3:c.314+110del	NP_071285.1:n.314+110del
NM_033013.3:c.197+110del	NP_148934.1:n.197+110del