Canonical Allele Identifier: CA897908161

Gene: NR1I2

Linked Data

• dbSNP Id: rs1246828914
• gnomAD v3: 3-119783156-AATC-A
• gnomAD v4: 3-119783156-AATC-A
• MyVariant Identifiers: chr3:g.119502004_119502006del (hg19) ; chr3:g.119783157_119783159del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119783158_119783160del , CM000665.2:g.119783158_119783160del	GRCh38
NC_000003.11:g.119502005_119502007del , CM000665.1:g.119502005_119502007del	GRCh37
NC_000003.10:g.120984695_120984697del	NCBI36
NG_011856.1:g.7675_7677del

Transcript Alleles

HGVS	Amino-acid change
ENST00000393716.8:c.-23+858_-23+860del MANE Select	ENSP00000377319.3:n.-23+858_-23+860del
ENST00000466380.6:c.-23+858_-23+860del	ENSP00000420297.2:n.-23+858_-23+860del
ENST00000648112.1:c.*2-24071_*2-24069del	ENSP00000497876.1:n.*2-24071_*2-24069del
ENST00000337940.4:c.95+306_95+308del	ENSP00000336528.4:n.95+306_95+308del
ENST00000393716.6:c.-23+858_-23+860del	ENSP00000377319.2:n.-23+858_-23+860del
ENST00000466380.5:c.-23+858_-23+860del	ENSP00000420297.1:n.-23+858_-23+860del
ENST00000474090.1:n.266+858_266+860del
NM_003889.3:c.-23+858_-23+860del	NP_003880.3:n.-23+858_-23+860del
NM_022002.2:c.95+306_95+308del	NP_071285.1:n.95+306_95+308del
NM_033013.2:c.-23+858_-23+860del	NP_148934.1:n.-23+858_-23+860del
NM_003889.4:c.-23+858_-23+860del MANE Select	NP_003880.3:n.-23+858_-23+860del
NM_022002.3:c.95+306_95+308del	NP_071285.1:n.95+306_95+308del
NM_033013.3:c.-23+858_-23+860del	NP_148934.1:n.-23+858_-23+860del