Canonical Allele Identifier: CA2667141649

Gene: NR1I2

Linked Data

• gnomAD v4: 3-119807305-GAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119807309_119807310del , CM000665.2:g.119807309_119807310del	GRCh38
NC_000003.11:g.119526156_119526157del , CM000665.1:g.119526156_119526157del	GRCh37
NC_000003.10:g.121008846_121008847del	NCBI36
NG_011856.1:g.31826_31827del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393716.8:c.59_60del MANE Select	ENSP00000377319.3:p.Thr20ArgfsTer13
ENST00000466380.6:c.59_60del	ENSP00000420297.2:p.Thr20ArgfsTer13
ENST00000648112.1:c.*82_*83del	ENSP00000497876.1:n.*82_*83del
ENST00000337940.4:c.176_177del	ENSP00000336528.4:p.Thr59ArgfsTer13
ENST00000393716.6:c.59_60del	ENSP00000377319.2:p.Thr20ArgfsTer13
ENST00000466380.5:c.59_60del	ENSP00000420297.1:p.Thr20ArgfsTer13
ENST00000474090.1:n.347_348del
NM_003889.3:c.59_60del	NP_003880.3:p.Thr20ArgfsTer13
NM_022002.2:c.176_177del	NP_071285.1:p.Thr59ArgfsTer13
NM_033013.2:c.59_60del	NP_148934.1:p.Thr20ArgfsTer13
NM_003889.4:c.59_60del MANE Select	NP_003880.3:p.Thr20ArgfsTer13
NM_022002.3:c.176_177del	NP_071285.1:p.Thr59ArgfsTer13
NM_033013.3:c.59_60del	NP_148934.1:p.Thr20ArgfsTer13