Canonical Allele Identifier: CA658684286

Gene: NR0B1

Linked Data

• ClinVar Variation Id: 492857
• ClinVar RCV Id: RCV002530827
• dbSNP Id: rs1555972943
• MyVariant Identifiers: chrX:g.30326293_30326312del (hg19) ; chrX:g.30308176_30308195del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.30308178_30308197del , CM000685.2:g.30308178_30308197del	GRCh38
NC_000023.10:g.30326295_30326314del , CM000685.1:g.30326295_30326314del	GRCh37
NC_000023.9:g.30236216_30236235del	NCBI36
NG_009814.1:g.6184_6203del

Transcript Alleles

HGVS	Amino-acid change
ENST00000378970.5:c.1168+1_1168+20del
ENST00000378963.1:c.283+1_283+20del
ENST00000378970.4:c.1168+1_1168+20del
NM_000475.4:c.1168+1_1168+20del
NM_000475.5:c.1168+1_1168+20del