Canonical Allele Identifier: CA81751021

Gene: NR1I2

Linked Data

• dbSNP Id: rs1010217705
• gnomAD v3: 3-119807561-CA-C
• gnomAD v4: 3-119807561-CA-C
• MyVariant Identifiers: chr3:g.119526409del (hg19) ; chr3:g.119807562del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119807564del , CM000665.2:g.119807564del	GRCh38
NC_000003.11:g.119526411del , CM000665.1:g.119526411del	GRCh37
NC_000003.10:g.121009101del	NCBI36
NG_011856.1:g.32081del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393716.8:c.197+117del MANE Select	ENSP00000377319.3:n.197+117del
ENST00000466380.6:c.197+117del	ENSP00000420297.2:n.197+117del
ENST00000648112.1:c.*337del	ENSP00000497876.1:n.*337del
ENST00000337940.4:c.314+117del	ENSP00000336528.4:n.314+117del
ENST00000393716.6:c.197+117del	ENSP00000377319.2:n.197+117del
ENST00000466380.5:c.197+117del	ENSP00000420297.1:n.197+117del
ENST00000474090.1:n.485+117del
NM_003889.3:c.197+117del	NP_003880.3:n.197+117del
NM_022002.2:c.314+117del	NP_071285.1:n.314+117del
NM_033013.2:c.197+117del	NP_148934.1:n.197+117del
NM_003889.4:c.197+117del MANE Select	NP_003880.3:n.197+117del
NM_022002.3:c.314+117del	NP_071285.1:n.314+117del
NM_033013.3:c.197+117del	NP_148934.1:n.197+117del