Canonical Allele Identifier: CA897891061

Gene: NR1I2

Linked Data

• dbSNP Id: rs1278954559
• gnomAD v3: 3-119806947-CTT-C
• gnomAD v4: 3-119806947-CTT-C
• MyVariant Identifiers: chr3:g.119525795_119525796del (hg19) ; chr3:g.119806948_119806949del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119806950_119806951del , CM000665.2:g.119806950_119806951del	GRCh38
NC_000003.11:g.119525797_119525798del , CM000665.1:g.119525797_119525798del	GRCh37
NC_000003.10:g.121008487_121008488del	NCBI36
NG_011856.1:g.31467_31468del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393716.8:c.-22-279_-22-278del MANE Select	ENSP00000377319.3:n.-22-279_-22-278del
ENST00000466380.6:c.-22-279_-22-278del	ENSP00000420297.2:n.-22-279_-22-278del
ENST00000648112.1:c.*2-279_*2-278del	ENSP00000497876.1:n.*2-279_*2-278del
ENST00000337940.4:c.96-279_96-278del	ENSP00000336528.4:n.96-279_96-278del
ENST00000393716.6:c.-22-279_-22-278del	ENSP00000377319.2:n.-22-279_-22-278del
ENST00000466380.5:c.-22-279_-22-278del	ENSP00000420297.1:n.-22-279_-22-278del
ENST00000474090.1:n.267-279_267-278del
NM_003889.3:c.-22-279_-22-278del	NP_003880.3:n.-22-279_-22-278del
NM_022002.2:c.96-279_96-278del	NP_071285.1:n.96-279_96-278del
NM_033013.2:c.-22-279_-22-278del	NP_148934.1:n.-22-279_-22-278del
NM_003889.4:c.-22-279_-22-278del MANE Select	NP_003880.3:n.-22-279_-22-278del
NM_022002.3:c.96-279_96-278del	NP_071285.1:n.96-279_96-278del
NM_033013.3:c.-22-279_-22-278del	NP_148934.1:n.-22-279_-22-278del