Canonical Allele Identifier: CA2497120317
Gene: NR3C1 HGNC NCBI

Linked Data

dbSNP Id: rs1816978461

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.143295465_143295469del , CM000667.2:g.143295465_143295469del GRCh38
NC_000005.9:g.142675030_142675034del , CM000667.1:g.142675030_142675034del GRCh37
NC_000005.8:g.142655223_142655227del NCBI36
NG_009062.1:g.145044_145048del

Transcript Alleles

HGVS Amino-acid change
ENST00000394464.7:c.2014_2018del MANE Select ENSP00000377977.2:p.Leu672PhefsTer4
ENST00000652686.1:c.1921_1925del ENSP00000498663.1:p.Leu641PhefsTer4
ENST00000231509.7:c.2017_2021del ENSP00000231509.3:p.Leu673PhefsTer4
ENST00000343796.6:c.2014_2018del ENSP00000343205.2:p.Leu672PhefsTer4
ENST00000394464.6:c.2014_2018del ENSP00000377977.2:p.Leu672PhefsTer4
ENST00000394466.6:c.2017_2021del ENSP00000377979.2:p.Leu673PhefsTer4
ENST00000415690.6:c.2014_2018del ENSP00000387672.2:p.Leu672PhefsTer4
ENST00000424646.6:c.1936_1940del ENSP00000405282.2:p.Leu646PhefsTer4
ENST00000503201.1:c.2014_2018del ENSP00000427672.1:p.Leu672PhefsTer4
ENST00000504572.5:c.2017_2021del ENSP00000422518.1:p.Leu673PhefsTer4
NM_000176.2:c.2014_2018del NP_000167.1:p.Leu672PhefsTer4
NM_001018074.1:c.2014_2018del NP_001018084.1:p.Leu672PhefsTer4
NM_001018075.1:c.2014_2018del NP_001018085.1:p.Leu672PhefsTer4
NM_001018076.1:c.2014_2018del NP_001018086.1:p.Leu672PhefsTer4
NM_001018077.1:c.2014_2018del NP_001018087.1:p.Leu672PhefsTer4
NM_001020825.1:c.2014_2018del NP_001018661.1:p.Leu672PhefsTer4
NM_001024094.1:c.2017_2021del NP_001019265.1:p.Leu673PhefsTer4
NM_001204258.1:c.1936_1940del NP_001191187.1:p.Leu646PhefsTer4
NM_001204259.1:c.1759_1763del NP_001191188.1:p.Leu587PhefsTer4
NM_001204260.1:c.1747_1751del NP_001191189.1:p.Leu583PhefsTer4
NM_001204261.1:c.1723_1727del NP_001191190.1:p.Leu575PhefsTer4
NM_001204262.1:c.1069_1073del NP_001191191.1:p.Leu357PhefsTer4
NM_001204263.1:c.1024_1028del NP_001191192.1:p.Leu342PhefsTer4
NM_001204264.1:c.1009_1013del NP_001191193.1:p.Leu337PhefsTer4
NM_001204265.1:c.2014_2018del NP_001191194.1:p.Leu672PhefsTer17
XM_005268419.2:c.2017_2021del XP_005268476.1:p.Leu673PhefsTer4
XM_005268420.3:c.2017_2021del XP_005268477.1:p.Leu673PhefsTer4
XM_005268422.2:c.2017_2021del XP_005268479.1:p.Leu673PhefsTer4
XM_005268423.2:c.2017_2021del XP_005268480.1:p.Leu673PhefsTer4
XM_011537637.1:c.823_827del XP_011535939.1:p.Leu275PhefsTer4
NR_157096.1:n.937_941del
XM_005268419.4:c.2017_2021del XP_005268476.1:p.Leu673PhefsTer4
XM_005268420.4:c.2017_2021del XP_005268477.1:p.Leu673PhefsTer4
XM_005268422.3:c.2017_2021del XP_005268479.1:p.Leu673PhefsTer4
XM_005268423.3:c.2017_2021del XP_005268480.1:p.Leu673PhefsTer4
XM_011537637.3:c.823_827del XP_011535939.1:p.Leu275PhefsTer4
XM_017009397.1:c.2014_2018del XP_016864886.1:p.Leu672PhefsTer4
XM_017009398.1:c.2014_2018del XP_016864887.1:p.Leu672PhefsTer4
NM_000176.3:c.2014_2018del MANE Select NP_000167.1:p.Leu672PhefsTer4
NM_001364180.1:c.2014_2018del NP_001351109.1:p.Leu672PhefsTer4
NM_001364181.1:c.2014_2018del NP_001351110.1:p.Leu672PhefsTer4
NM_001364182.1:c.2014_2018del NP_001351111.1:p.Leu672PhefsTer4
NM_001364183.1:c.2017_2021del NP_001351112.1:p.Leu673PhefsTer4
NM_001364184.1:c.2017_2021del NP_001351113.1:p.Leu673PhefsTer4
NM_001364185.1:c.2017_2021del NP_001351114.1:p.Leu673PhefsTer4
NM_001018076.2:c.2014_2018del NP_001018086.1:p.Leu672PhefsTer4
NM_001020825.2:c.2014_2018del NP_001018661.1:p.Leu672PhefsTer4
NM_001024094.2:c.2017_2021del NP_001019265.1:p.Leu673PhefsTer4
NM_001204258.2:c.1936_1940del NP_001191187.1:p.Leu646PhefsTer4
NM_001204259.2:c.1759_1763del NP_001191188.1:p.Leu587PhefsTer4
NM_001204260.2:c.1747_1751del NP_001191189.1:p.Leu583PhefsTer4
NM_001204261.2:c.1723_1727del NP_001191190.1:p.Leu575PhefsTer4
NM_001204262.2:c.1069_1073del NP_001191191.1:p.Leu357PhefsTer4
NM_001204263.2:c.1024_1028del NP_001191192.1:p.Leu342PhefsTer4
NM_001204264.2:c.1009_1013del NP_001191193.1:p.Leu337PhefsTer4
NM_001204265.2:c.2014_2018del NP_001191194.1:p.Leu672PhefsTer17
NM_001364180.2:c.2014_2018del NP_001351109.1:p.Leu672PhefsTer4
NM_001364181.2:c.2014_2018del NP_001351110.1:p.Leu672PhefsTer4
NM_001364183.2:c.2017_2021del NP_001351112.1:p.Leu673PhefsTer4
NM_001364184.2:c.2017_2021del NP_001351113.1:p.Leu673PhefsTer4
NR_157096.2:n.937_941del