Canonical Allele Identifier: CA2672314027

Gene: NR3C2

Linked Data

• gnomAD v4: 4-148154807-GCTTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.148154808_148154811del , CM000666.2:g.148154808_148154811del	GRCh38
NC_000004.11:g.149075959_149075962del , CM000666.1:g.149075959_149075962del	GRCh37
NC_000004.10:g.149295409_149295412del	NCBI36
NG_013350.1:g.292711_292714del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358102.8:c.2105_2108del MANE Select	ENSP00000350815.3:p.Gln702ProfsTer?
ENST00000342437.8:c.2015-34523_2015-34520del	ENSP00000343907.4:n.2015-34523_2015-34520del
ENST00000344721.8:c.2105_2108del	ENSP00000341390.4:p.Gln702ProfsTer?
ENST00000358102.7:c.2105_2108del	ENSP00000350815.3:p.Gln702ProfsTer?
ENST00000503174.1:n.34_37del
ENST00000503313.1:n.302_305del
ENST00000511528.1:c.2117_2120del	ENSP00000421481.1:p.Gln706ProfsTer?
ENST00000512865.5:c.2015-2198_2015-2195del	ENSP00000423510.1:n.2015-2198_2015-2195del
ENST00000625323.2:c.2117_2120del	ENSP00000486719.1:p.Gln706ProfsTer?
NM_000901.4:c.2105_2108del	NP_000892.2:p.Gln702ProfsTer?
NM_001166104.1:c.2015-2198_2015-2195del	NP_001159576.1:n.2015-2198_2015-2195del
XM_011531975.1:c.2117_2120del	XP_011530277.1:p.Gln706ProfsTer?
XM_011531976.1:c.2117_2120del	XP_011530278.1:p.Gln706ProfsTer?
XM_011531977.1:c.2117_2120del	XP_011530279.1:p.Gln706ProfsTer?
XM_011531978.1:c.2117_2120del	XP_011530280.1:p.Gln706ProfsTer?
NM_001354819.1:c.2015-2198_2015-2195del	NP_001341748.1:n.2015-2198_2015-2195del
NR_148974.1:n.2378-34523_2378-34520del
XM_011531978.2:c.2117_2120del	XP_011530280.1:p.Gln706ProfsTer?
NM_000901.5:c.2105_2108del MANE Select	NP_000892.2:p.Gln702ProfsTer?
NM_001166104.2:c.2015-2198_2015-2195del	NP_001159576.1:n.2015-2198_2015-2195del
NR_148974.2:n.2272-34523_2272-34520del