Canonical Allele Identifier: CA2497120018
Gene: NR3C1 HGNC NCBI

Linked Data

dbSNP Id: rs1813279879

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.143282321_143282322del , CM000667.2:g.143282321_143282322del GRCh38
NC_000005.9:g.142661886_142661887del , CM000667.1:g.142661886_142661887del GRCh37
NC_000005.8:g.142642079_142642080del NCBI36
NG_009062.1:g.158191_158192del

Transcript Alleles

HGVS Amino-acid change
ENST00000394464.7:c.2181+246_2181+247del MANE Select ENSP00000377977.2:n.2181+246_2181+247del
ENST00000652686.1:c.2088+246_2088+247del ENSP00000498663.1:n.2088+246_2088+247del
ENST00000231509.7:c.2184+246_2184+247del ENSP00000231509.3:n.2184+246_2184+247del
ENST00000343796.6:c.2181+246_2181+247del ENSP00000343205.2:n.2181+246_2181+247del
ENST00000394464.6:c.2181+246_2181+247del ENSP00000377977.2:n.2181+246_2181+247del
ENST00000394466.6:c.2184+246_2184+247del ENSP00000377979.2:n.2184+246_2184+247del
ENST00000415690.6:c.2181+246_2181+247del ENSP00000387672.2:n.2181+246_2181+247del
ENST00000424646.6:c.2103+246_2103+247del ENSP00000405282.2:n.2103+246_2103+247del
ENST00000503201.1:c.2181+246_2181+247del ENSP00000427672.1:n.2181+246_2181+247del
ENST00000504572.5:c.2184+246_2184+247del ENSP00000422518.1:n.2184+246_2184+247del
NM_000176.2:c.2181+246_2181+247del NP_000167.1:n.2181+246_2181+247del
NM_001018074.1:c.2181+246_2181+247del NP_001018084.1:n.2181+246_2181+247del
NM_001018075.1:c.2181+246_2181+247del NP_001018085.1:n.2181+246_2181+247del
NM_001018076.1:c.2181+246_2181+247del NP_001018086.1:n.2181+246_2181+247del
NM_001018077.1:c.2181+246_2181+247del NP_001018087.1:n.2181+246_2181+247del
NM_001020825.1:c.2181+246_2181+247del NP_001018661.1:n.2181+246_2181+247del
NM_001024094.1:c.2184+246_2184+247del NP_001019265.1:n.2184+246_2184+247del
NM_001204258.1:c.2103+246_2103+247del NP_001191187.1:n.2103+246_2103+247del
NM_001204259.1:c.1926+246_1926+247del NP_001191188.1:n.1926+246_1926+247del
NM_001204260.1:c.1914+246_1914+247del NP_001191189.1:n.1914+246_1914+247del
NM_001204261.1:c.1890+246_1890+247del NP_001191190.1:n.1890+246_1890+247del
NM_001204262.1:c.1236+246_1236+247del NP_001191191.1:n.1236+246_1236+247del
NM_001204263.1:c.1191+246_1191+247del NP_001191192.1:n.1191+246_1191+247del
NM_001204264.1:c.1176+246_1176+247del NP_001191193.1:n.1176+246_1176+247del
XM_005268419.2:c.2184+246_2184+247del XP_005268476.1:n.2184+246_2184+247del
XM_005268420.3:c.2184+246_2184+247del XP_005268477.1:n.2184+246_2184+247del
XM_005268422.2:c.2184+246_2184+247del XP_005268479.1:n.2184+246_2184+247del
XM_005268423.2:c.2184+246_2184+247del XP_005268480.1:n.2184+246_2184+247del
XM_011537637.1:c.990+246_990+247del XP_011535939.1:n.990+246_990+247del
XR_944371.1:n.656-2378_656-2377del
NR_157096.1:n.1104+246_1104+247del
XM_005268419.4:c.2184+246_2184+247del XP_005268476.1:n.2184+246_2184+247del
XM_005268420.4:c.2184+246_2184+247del XP_005268477.1:n.2184+246_2184+247del
XM_005268422.3:c.2184+246_2184+247del XP_005268479.1:n.2184+246_2184+247del
XM_005268423.3:c.2184+246_2184+247del XP_005268480.1:n.2184+246_2184+247del
XM_011537637.3:c.990+246_990+247del XP_011535939.1:n.990+246_990+247del
XM_017009397.1:c.2181+246_2181+247del XP_016864886.1:n.2181+246_2181+247del
XM_017009398.1:c.2181+246_2181+247del XP_016864887.1:n.2181+246_2181+247del
NM_000176.3:c.2181+246_2181+247del MANE Select NP_000167.1:n.2181+246_2181+247del
NM_001364180.1:c.2181+246_2181+247del NP_001351109.1:n.2181+246_2181+247del
NM_001364181.1:c.2181+246_2181+247del NP_001351110.1:n.2181+246_2181+247del
NM_001364182.1:c.2181+246_2181+247del NP_001351111.1:n.2181+246_2181+247del
NM_001364183.1:c.2184+246_2184+247del NP_001351112.1:n.2184+246_2184+247del
NM_001364184.1:c.2184+246_2184+247del NP_001351113.1:n.2184+246_2184+247del
NM_001364185.1:c.2184+246_2184+247del NP_001351114.1:n.2184+246_2184+247del
NM_001018076.2:c.2181+246_2181+247del NP_001018086.1:n.2181+246_2181+247del
NM_001020825.2:c.2181+246_2181+247del NP_001018661.1:n.2181+246_2181+247del
NM_001024094.2:c.2184+246_2184+247del NP_001019265.1:n.2184+246_2184+247del
NM_001204258.2:c.2103+246_2103+247del NP_001191187.1:n.2103+246_2103+247del
NM_001204259.2:c.1926+246_1926+247del NP_001191188.1:n.1926+246_1926+247del
NM_001204260.2:c.1914+246_1914+247del NP_001191189.1:n.1914+246_1914+247del
NM_001204261.2:c.1890+246_1890+247del NP_001191190.1:n.1890+246_1890+247del
NM_001204262.2:c.1236+246_1236+247del NP_001191191.1:n.1236+246_1236+247del
NM_001204263.2:c.1191+246_1191+247del NP_001191192.1:n.1191+246_1191+247del
NM_001204264.2:c.1176+246_1176+247del NP_001191193.1:n.1176+246_1176+247del
NM_001364180.2:c.2181+246_2181+247del NP_001351109.1:n.2181+246_2181+247del
NM_001364181.2:c.2181+246_2181+247del NP_001351110.1:n.2181+246_2181+247del
NM_001364183.2:c.2184+246_2184+247del NP_001351112.1:n.2184+246_2184+247del
NM_001364184.2:c.2184+246_2184+247del NP_001351113.1:n.2184+246_2184+247del
NR_157096.2:n.1104+246_1104+247del