Canonical Allele Identifier: CA983655837

Gene: NR1D1

Linked Data

• dbSNP Id: rs1987819395
• gnomAD v3: 17-40099012-G-GT
• gnomAD v4: 17-40099012-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40099012_40099013insT , CM000679.2:g.40099012_40099013insT	GRCh38
NC_000017.10:g.38255265_38255266insT , CM000679.1:g.38255265_38255266insT	GRCh37
NC_000017.9:g.35508791_35508792insT	NCBI36
NG_033084.1:g.6713_6714insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246672.4:c.31+1051_31+1052insA MANE Select	ENSP00000246672.3:n.31+1051_31+1052insA
ENST00000246672.3:c.31+1051_31+1052insA	ENSP00000246672.3:n.31+1051_31+1052insA
NM_021724.4:c.31+1051_31+1052insA	NP_068370.1:n.31+1051_31+1052insA
NM_021724.5:c.31+1051_31+1052insA MANE Select	NP_068370.1:n.31+1051_31+1052insA