Canonical Allele Identifier: CA2593748500

Gene: NR1D1

Linked Data

• gnomAD v3: 17-40099310-AGGG-A
• gnomAD v4: 17-40099310-AGGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40099312_40099314del , CM000679.2:g.40099312_40099314del	GRCh38
NC_000017.10:g.38255565_38255567del , CM000679.1:g.38255565_38255567del	GRCh37
NC_000017.9:g.35509091_35509093del	NCBI36
NG_033084.1:g.6413_6415del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246672.4:c.31+751_31+753del MANE Select	ENSP00000246672.3:n.31+751_31+753del
ENST00000246672.3:c.31+751_31+753del	ENSP00000246672.3:n.31+751_31+753del
NM_021724.4:c.31+751_31+753del	NP_068370.1:n.31+751_31+753del
NM_021724.5:c.31+751_31+753del MANE Select	NP_068370.1:n.31+751_31+753del