Canonical Allele Identifier: CA771898318

Gene: NR1D1

Linked Data

• dbSNP Id: rs1427281882
• gnomAD v3: 17-40099258-GGCCACCAGGTCGT-G
• gnomAD v4: 17-40099258-GGCCACCAGGTCGT-G
• MyVariant Identifiers: chr17:g.38255512_38255524del (hg19) ; chr17:g.40099259_40099271del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40099260_40099272del , CM000679.2:g.40099260_40099272del	GRCh38
NC_000017.10:g.38255513_38255525del , CM000679.1:g.38255513_38255525del	GRCh37
NC_000017.9:g.35509039_35509051del	NCBI36
NG_033084.1:g.6455_6467del

Transcript Alleles

HGVS	Amino-acid change
ENST00000246672.4:c.31+793_31+805del MANE Select	ENSP00000246672.3:n.31+793_31+805del
ENST00000246672.3:c.31+793_31+805del	ENSP00000246672.3:n.31+793_31+805del
NM_021724.4:c.31+793_31+805del	NP_068370.1:n.31+793_31+805del
NM_021724.5:c.31+793_31+805del MANE Select	NP_068370.1:n.31+793_31+805del