Canonical Allele Identifier: CA771897917
Gene: NR1D1 HGNC NCBI

Linked Data

dbSNP Id: rs1192462592
gnomAD v3: 17-40098812-AAGG-A
gnomAD v4: 17-40098812-AAGG-A
MyVariant Identifiers: chr17:g.38255066_38255068del (hg19) chr17:g.40098813_40098815del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.40098815_40098817del , CM000679.2:g.40098815_40098817del GRCh38
NC_000017.10:g.38255068_38255070del , CM000679.1:g.38255068_38255070del GRCh37
NC_000017.9:g.35508594_35508596del NCBI36
NG_033084.1:g.6911_6913del

Transcript Alleles

HGVS Amino-acid Change
ENST00000246672.4:c.31+1249_31+1251del MANE Select ENSP00000246672.3:n.31+1249_31+1251del
ENST00000246672.3:c.31+1249_31+1251del ENSP00000246672.3:n.31+1249_31+1251del
NM_021724.4:c.31+1249_31+1251del NP_068370.1:n.31+1249_31+1251del
NM_021724.5:c.31+1249_31+1251del MANE Select NP_068370.1:n.31+1249_31+1251del
Search 100 bp 5'
Search 100 bp 3'