Canonical Allele Identifier: CA771898009
Gene: NR1D1 HGNC NCBI

Linked Data

dbSNP Id: rs1466283192
gnomAD v3: 17-40098995-CTT-C
gnomAD v4: 17-40098995-CTT-C
MyVariant Identifiers: chr17:g.38255249_38255250del (hg19) chr17:g.40098996_40098997del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.40098997_40098998del , CM000679.2:g.40098997_40098998del GRCh38
NC_000017.10:g.38255250_38255251del , CM000679.1:g.38255250_38255251del GRCh37
NC_000017.9:g.35508776_35508777del NCBI36
NG_033084.1:g.6729_6730del

Transcript Alleles

HGVS Amino-acid Change
ENST00000246672.4:c.31+1067_31+1068del MANE Select ENSP00000246672.3:n.31+1067_31+1068del
ENST00000246672.3:c.31+1067_31+1068del ENSP00000246672.3:n.31+1067_31+1068del
NM_021724.4:c.31+1067_31+1068del NP_068370.1:n.31+1067_31+1068del
NM_021724.5:c.31+1067_31+1068del MANE Select NP_068370.1:n.31+1067_31+1068del
Search 100 bp 5'
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