Canonical Allele Identifier: CA2672314882

Gene: NR3C2

Linked Data

• ClinVar Variation Id: 2663555
• ClinVar RCV Id: RCV003442743
• gnomAD v4: 4-148435921-AAGGGCTGGAAAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.148435924_148435935del , CM000666.2:g.148435924_148435935del	GRCh38
NC_000004.11:g.149357076_149357087del , CM000666.1:g.149357076_149357087del	GRCh37
NC_000004.10:g.149576526_149576537del	NCBI36
NG_013350.1:g.11588_11599del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358102.8:c.928_939del MANE Select	ENSP00000350815.3:p.Val310_Pro313del
ENST00000342437.8:c.928_939del	ENSP00000343907.4:p.Val310_Pro313del
ENST00000344721.8:c.928_939del	ENSP00000341390.4:p.Val310_Pro313del
ENST00000358102.7:c.928_939del	ENSP00000350815.3:p.Val310_Pro313del
ENST00000511528.1:c.928_939del	ENSP00000421481.1:p.Val310_Pro313del
ENST00000512865.5:c.928_939del	ENSP00000423510.1:p.Val310_Pro313del
ENST00000625323.2:c.928_939del	ENSP00000486719.1:p.Val310_Pro313del
NM_000901.4:c.928_939del	NP_000892.2:p.Val310_Pro313del
NM_001166104.1:c.928_939del	NP_001159576.1:p.Val310_Pro313del
XM_011531975.1:c.928_939del	XP_011530277.1:p.Val310_Pro313del
XM_011531976.1:c.928_939del	XP_011530278.1:p.Val310_Pro313del
XM_011531977.1:c.928_939del	XP_011530279.1:p.Val310_Pro313del
XM_011531978.1:c.928_939del	XP_011530280.1:p.Val310_Pro313del
NM_001354819.1:c.928_939del	NP_001341748.1:p.Val310_Pro313del
NR_148974.1:n.1291_1302del
XM_011531978.2:c.928_939del	XP_011530280.1:p.Val310_Pro313del
NM_000901.5:c.928_939del MANE Select	NP_000892.2:p.Val310_Pro313del
NM_001166104.2:c.928_939del	NP_001159576.1:p.Val310_Pro313del
NR_148974.2:n.1185_1196del