Canonical Allele Identifier: CA983655988

Gene: NR1D1

Linked Data

• dbSNP Id: rs1987824218
• gnomAD v3: 17-40099141-TCCACGTGTGCCTCTCG-T
• gnomAD v4: 17-40099141-TCCACGTGTGCCTCTCG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40099143_40099158del , CM000679.2:g.40099143_40099158del	GRCh38
NC_000017.10:g.38255396_38255411del , CM000679.1:g.38255396_38255411del	GRCh37
NC_000017.9:g.35508922_35508937del	NCBI36
NG_033084.1:g.6569_6584del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246672.4:c.31+907_31+922del MANE Select	ENSP00000246672.3:n.31+907_31+922del
ENST00000246672.3:c.31+907_31+922del	ENSP00000246672.3:n.31+907_31+922del
NM_021724.4:c.31+907_31+922del	NP_068370.1:n.31+907_31+922del
NM_021724.5:c.31+907_31+922del MANE Select	NP_068370.1:n.31+907_31+922del