Canonical Allele Identifier: CA81750744

Gene: NR1I2

Linked Data

• dbSNP Id: rs865877778
• gnomAD v4: 3-119807268-AG-A
• MyVariant Identifiers: chr3:g.119526116del (hg19) ; chr3:g.119807269del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119807269del , CM000665.2:g.119807269del	GRCh38
NC_000003.11:g.119526116del , CM000665.1:g.119526116del	GRCh37
NC_000003.10:g.121008806del	NCBI36
NG_011856.1:g.31786del

Transcript Alleles

HGVS	Amino-acid change
ENST00000393716.8:c.19del MANE Select	ENSP00000377319.3:p.Glu7LysfsTer?
ENST00000466380.6:c.19del	ENSP00000420297.2:p.Glu7LysfsTer?
ENST00000648112.1:c.*42del	ENSP00000497876.1:n.*42del
ENST00000337940.4:c.136del	ENSP00000336528.4:p.Glu46LysfsTer?
ENST00000393716.6:c.19del	ENSP00000377319.2:p.Glu7LysfsTer?
ENST00000466380.5:c.19del	ENSP00000420297.1:p.Glu7LysfsTer?
ENST00000474090.1:n.307del
NM_003889.3:c.19del	NP_003880.3:p.Glu7LysfsTer?
NM_022002.2:c.136del	NP_071285.1:p.Glu46LysfsTer?
NM_033013.2:c.19del	NP_148934.1:p.Glu7LysfsTer?
NM_003889.4:c.19del MANE Select	NP_003880.3:p.Glu7LysfsTer?
NM_022002.3:c.136del	NP_071285.1:p.Glu46LysfsTer?
NM_033013.3:c.19del	NP_148934.1:p.Glu7LysfsTer?