Canonical Allele Identifier: CA2675766881

Gene: NR3C1

Linked Data

• gnomAD v4: 5-143300733-ATTCCTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.143300736_143300741del , CM000667.2:g.143300736_143300741del	GRCh38
NC_000005.9:g.142680301_142680306del , CM000667.1:g.142680301_142680306del	GRCh37
NC_000005.8:g.142660494_142660499del	NCBI36
NG_009062.1:g.139774_139779del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394464.7:c.1493_1498del MANE Select	ENSP00000377977.2:p.Lys498_Gly499del
ENST00000652686.1:c.1493_1498del	ENSP00000498663.1:p.Lys498_Gly499del
ENST00000231509.7:c.1496_1501del	ENSP00000231509.3:p.Lys499_Gly500del
ENST00000343796.6:c.1493_1498del	ENSP00000343205.2:p.Lys498_Gly499del
ENST00000394464.6:c.1493_1498del	ENSP00000377977.2:p.Lys498_Gly499del
ENST00000394466.6:c.1496_1501del	ENSP00000377979.2:p.Lys499_Gly500del
ENST00000415690.6:c.1493_1498del	ENSP00000387672.2:p.Lys498_Gly499del
ENST00000424646.6:c.1415_1420del	ENSP00000405282.2:p.Lys472_Gly473del
ENST00000503201.1:c.1493_1498del	ENSP00000427672.1:p.Lys498_Gly499del
ENST00000504336.1:n.433_438del
ENST00000504572.5:c.1496_1501del	ENSP00000422518.1:p.Lys499_Gly500del
NM_000176.2:c.1493_1498del	NP_000167.1:p.Lys498_Gly499del
NM_001018074.1:c.1493_1498del	NP_001018084.1:p.Lys498_Gly499del
NM_001018075.1:c.1493_1498del	NP_001018085.1:p.Lys498_Gly499del
NM_001018076.1:c.1493_1498del	NP_001018086.1:p.Lys498_Gly499del
NM_001018077.1:c.1493_1498del	NP_001018087.1:p.Lys498_Gly499del
NM_001020825.1:c.1493_1498del	NP_001018661.1:p.Lys498_Gly499del
NM_001024094.1:c.1496_1501del	NP_001019265.1:p.Lys499_Gly500del
NM_001204258.1:c.1415_1420del	NP_001191187.1:p.Lys472_Gly473del
NM_001204259.1:c.1238_1243del	NP_001191188.1:p.Lys413_Gly414del
NM_001204260.1:c.1226_1231del	NP_001191189.1:p.Lys409_Gly410del
NM_001204261.1:c.1202_1207del	NP_001191190.1:p.Lys401_Gly402del
NM_001204262.1:c.548_553del	NP_001191191.1:p.Lys183_Gly184del
NM_001204263.1:c.503_508del	NP_001191192.1:p.Lys168_Gly169del
NM_001204264.1:c.488_493del	NP_001191193.1:p.Lys163_Gly164del
NM_001204265.1:c.1493_1498del	NP_001191194.1:p.Lys498_Gly499del
XM_005268419.2:c.1496_1501del	XP_005268476.1:p.Lys499_Gly500del
XM_005268420.3:c.1496_1501del	XP_005268477.1:p.Lys499_Gly500del
XM_005268422.2:c.1496_1501del	XP_005268479.1:p.Lys499_Gly500del
XM_005268423.2:c.1496_1501del	XP_005268480.1:p.Lys499_Gly500del
XM_011537637.1:c.302_307del	XP_011535939.1:p.Lys101_Gly102del
NR_157096.1:n.416_421del
XM_005268419.4:c.1496_1501del	XP_005268476.1:p.Lys499_Gly500del
XM_005268420.4:c.1496_1501del	XP_005268477.1:p.Lys499_Gly500del
XM_005268422.3:c.1496_1501del	XP_005268479.1:p.Lys499_Gly500del
XM_005268423.3:c.1496_1501del	XP_005268480.1:p.Lys499_Gly500del
XM_011537637.3:c.302_307del	XP_011535939.1:p.Lys101_Gly102del
XM_017009397.1:c.1493_1498del	XP_016864886.1:p.Lys498_Gly499del
XM_017009398.1:c.1493_1498del	XP_016864887.1:p.Lys498_Gly499del
NM_000176.3:c.1493_1498del MANE Select	NP_000167.1:p.Lys498_Gly499del
NM_001364180.1:c.1493_1498del	NP_001351109.1:p.Lys498_Gly499del
NM_001364181.1:c.1493_1498del	NP_001351110.1:p.Lys498_Gly499del
NM_001364182.1:c.1493_1498del	NP_001351111.1:p.Lys498_Gly499del
NM_001364183.1:c.1496_1501del	NP_001351112.1:p.Lys499_Gly500del
NM_001364184.1:c.1496_1501del	NP_001351113.1:p.Lys499_Gly500del
NM_001364185.1:c.1496_1501del	NP_001351114.1:p.Lys499_Gly500del
NM_001018076.2:c.1493_1498del	NP_001018086.1:p.Lys498_Gly499del
NM_001020825.2:c.1493_1498del	NP_001018661.1:p.Lys498_Gly499del
NM_001024094.2:c.1496_1501del	NP_001019265.1:p.Lys499_Gly500del
NM_001204258.2:c.1415_1420del	NP_001191187.1:p.Lys472_Gly473del
NM_001204259.2:c.1238_1243del	NP_001191188.1:p.Lys413_Gly414del
NM_001204260.2:c.1226_1231del	NP_001191189.1:p.Lys409_Gly410del
NM_001204261.2:c.1202_1207del	NP_001191190.1:p.Lys401_Gly402del
NM_001204262.2:c.548_553del	NP_001191191.1:p.Lys183_Gly184del
NM_001204263.2:c.503_508del	NP_001191192.1:p.Lys168_Gly169del
NM_001204264.2:c.488_493del	NP_001191193.1:p.Lys163_Gly164del
NM_001204265.2:c.1493_1498del	NP_001191194.1:p.Lys498_Gly499del
NM_001364180.2:c.1493_1498del	NP_001351109.1:p.Lys498_Gly499del
NM_001364181.2:c.1493_1498del	NP_001351110.1:p.Lys498_Gly499del
NM_001364183.2:c.1496_1501del	NP_001351112.1:p.Lys499_Gly500del
NM_001364184.2:c.1496_1501del	NP_001351113.1:p.Lys499_Gly500del
NR_157096.2:n.416_421del