Canonical Allele Identifier: CA2537406521

Gene: NR1I2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119807435del , CM000665.2:g.119807435del	GRCh38
NC_000003.11:g.119526282del , CM000665.1:g.119526282del	GRCh37
NC_000003.10:g.121008972del	NCBI36
NG_011856.1:g.31952del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393716.8:c.185del MANE Select	ENSP00000377319.3:p.Lys62ArgfsTer8
ENST00000466380.6:c.185del	ENSP00000420297.2:p.Lys62ArgfsTer8
ENST00000648112.1:c.*208del	ENSP00000497876.1:n.*208del
ENST00000337940.4:c.302del	ENSP00000336528.4:p.Lys101ArgfsTer8
ENST00000393716.6:c.185del	ENSP00000377319.2:p.Lys62ArgfsTer8
ENST00000466380.5:c.185del	ENSP00000420297.1:p.Lys62ArgfsTer8
ENST00000474090.1:n.473del
NM_003889.3:c.185del	NP_003880.3:p.Lys62ArgfsTer8
NM_022002.2:c.302del	NP_071285.1:p.Lys101ArgfsTer8
NM_033013.2:c.185del	NP_148934.1:p.Lys62ArgfsTer8
NM_003889.4:c.185del MANE Select	NP_003880.3:p.Lys62ArgfsTer8
NM_022002.3:c.302del	NP_071285.1:p.Lys101ArgfsTer8
NM_033013.3:c.185del	NP_148934.1:p.Lys62ArgfsTer8