Canonical Allele Identifier: CA545961523

Gene: NR1I2

Linked Data

• dbSNP Id: rs1374760402
• gnomAD v2: 3-119530391-ATGTCCGACGAGGCCG-A
• gnomAD v3: 3-119811544-ATGTCCGACGAGGCCG-A
• gnomAD v4: 3-119811544-ATGTCCGACGAGGCCG-A
• MyVariant Identifiers: chr3:g.119530392_119530406del (hg19) ; chr3:g.119811545_119811559del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119811547_119811561del , CM000665.2:g.119811547_119811561del	GRCh38
NC_000003.11:g.119530394_119530408del , CM000665.1:g.119530394_119530408del	GRCh37
NC_000003.10:g.121013084_121013098del	NCBI36
NG_011856.1:g.36064_36078del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393716.8:c.340_354del MANE Select	ENSP00000377319.3:p.Ser114_Val118del
ENST00000466380.6:c.340_354del	ENSP00000420297.2:p.Ser114_Val118del
ENST00000337940.4:c.457_471del	ENSP00000336528.4:p.Ser153_Val157del
ENST00000393716.6:c.340_354del	ENSP00000377319.2:p.Ser114_Val118del
ENST00000466380.5:c.340_354del	ENSP00000420297.1:p.Ser114_Val118del
ENST00000493757.1:n.472_486del
NM_003889.3:c.340_354del	NP_003880.3:p.Ser114_Val118del
NM_022002.2:c.457_471del	NP_071285.1:p.Ser153_Val157del
NM_033013.2:c.340_354del	NP_148934.1:p.Ser114_Val118del
NM_003889.4:c.340_354del MANE Select	NP_003880.3:p.Ser114_Val118del
NM_022002.3:c.457_471del	NP_071285.1:p.Ser153_Val157del
NM_033013.3:c.340_354del	NP_148934.1:p.Ser114_Val118del