Canonical Allele Identifier: CA645567693

Gene: NR3C1

Linked Data

• gnomAD v4: 5-143281909-G-GT
• COSMIC: COSM3209599

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.143281915dup , CM000667.2:g.143281915dup	GRCh38
NC_000005.9:g.142661480dup , CM000667.1:g.142661480dup	GRCh37
NC_000005.8:g.142641673dup	NCBI36
NG_009062.1:g.158603dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000394464.7:c.2313dup MANE Select	ENSP00000377977.2:p.Leu772ThrfsTer27
ENST00000652686.1:c.2220dup	ENSP00000498663.1:p.Leu741ThrfsTer27
ENST00000231509.7:c.2316dup	ENSP00000231509.3:p.Leu773ThrfsTer27
ENST00000343796.6:c.2313dup	ENSP00000343205.2:p.Leu772ThrfsTer27
ENST00000394464.6:c.2313dup	ENSP00000377977.2:p.Leu772ThrfsTer27
ENST00000394466.6:c.2316dup	ENSP00000377979.2:p.Leu773ThrfsTer27
ENST00000415690.6:c.2181+658dup	ENSP00000387672.2:n.2181+658dup
ENST00000424646.6:c.2235dup	ENSP00000405282.2:p.Leu746ThrfsTer27
ENST00000503201.1:c.2313dup	ENSP00000427672.1:p.Leu772ThrfsTer27
ENST00000504572.5:c.2316dup	ENSP00000422518.1:p.Leu773ThrfsTer27
NM_000176.2:c.2313dup	NP_000167.1:p.Leu772ThrfsTer27
NM_001018074.1:c.2313dup	NP_001018084.1:p.Leu772ThrfsTer27
NM_001018075.1:c.2313dup	NP_001018085.1:p.Leu772ThrfsTer27
NM_001018076.1:c.2313dup	NP_001018086.1:p.Leu772ThrfsTer27
NM_001018077.1:c.2313dup	NP_001018087.1:p.Leu772ThrfsTer27
NM_001020825.1:c.2181+658dup	NP_001018661.1:n.2181+658dup
NM_001024094.1:c.2316dup	NP_001019265.1:p.Leu773ThrfsTer27
NM_001204258.1:c.2235dup	NP_001191187.1:p.Leu746ThrfsTer27
NM_001204259.1:c.2058dup	NP_001191188.1:p.Leu687ThrfsTer27
NM_001204260.1:c.2046dup	NP_001191189.1:p.Leu683ThrfsTer27
NM_001204261.1:c.2022dup	NP_001191190.1:p.Leu675ThrfsTer27
NM_001204262.1:c.1368dup	NP_001191191.1:p.Leu457ThrfsTer27
NM_001204263.1:c.1323dup	NP_001191192.1:p.Leu442ThrfsTer27
NM_001204264.1:c.1308dup	NP_001191193.1:p.Leu437ThrfsTer27
XM_005268419.2:c.2316dup	XP_005268476.1:p.Leu773ThrfsTer27
XM_005268420.3:c.2316dup	XP_005268477.1:p.Leu773ThrfsTer27
XM_005268422.2:c.2316dup	XP_005268479.1:p.Leu773ThrfsTer27
XM_005268423.2:c.2316dup	XP_005268480.1:p.Leu773ThrfsTer27
XM_011537637.1:c.1122dup	XP_011535939.1:p.Leu375ThrfsTer27
XR_944371.1:n.656-2784dup
NR_157096.1:n.1236dup
XM_005268419.4:c.2316dup	XP_005268476.1:p.Leu773ThrfsTer27
XM_005268420.4:c.2316dup	XP_005268477.1:p.Leu773ThrfsTer27
XM_005268422.3:c.2316dup	XP_005268479.1:p.Leu773ThrfsTer27
XM_005268423.3:c.2316dup	XP_005268480.1:p.Leu773ThrfsTer27
XM_011537637.3:c.1122dup	XP_011535939.1:p.Leu375ThrfsTer27
XM_017009397.1:c.2313dup	XP_016864886.1:p.Leu772ThrfsTer27
XM_017009398.1:c.2313dup	XP_016864887.1:p.Leu772ThrfsTer27
NM_000176.3:c.2313dup MANE Select	NP_000167.1:p.Leu772ThrfsTer27
NM_001364180.1:c.2313dup	NP_001351109.1:p.Leu772ThrfsTer27
NM_001364181.1:c.2313dup	NP_001351110.1:p.Leu772ThrfsTer27
NM_001364182.1:c.2313dup	NP_001351111.1:p.Leu772ThrfsTer27
NM_001364183.1:c.2316dup	NP_001351112.1:p.Leu773ThrfsTer27
NM_001364184.1:c.2316dup	NP_001351113.1:p.Leu773ThrfsTer27
NM_001364185.1:c.2316dup	NP_001351114.1:p.Leu773ThrfsTer27
NM_001018076.2:c.2313dup	NP_001018086.1:p.Leu772ThrfsTer27
NM_001020825.2:c.2181+658dup	NP_001018661.1:n.2181+658dup
NM_001024094.2:c.2316dup	NP_001019265.1:p.Leu773ThrfsTer27
NM_001204258.2:c.2235dup	NP_001191187.1:p.Leu746ThrfsTer27
NM_001204259.2:c.2058dup	NP_001191188.1:p.Leu687ThrfsTer27
NM_001204260.2:c.2046dup	NP_001191189.1:p.Leu683ThrfsTer27
NM_001204261.2:c.2022dup	NP_001191190.1:p.Leu675ThrfsTer27
NM_001204262.2:c.1368dup	NP_001191191.1:p.Leu457ThrfsTer27
NM_001204263.2:c.1323dup	NP_001191192.1:p.Leu442ThrfsTer27
NM_001204264.2:c.1308dup	NP_001191193.1:p.Leu437ThrfsTer27
NM_001364180.2:c.2313dup	NP_001351109.1:p.Leu772ThrfsTer27
NM_001364181.2:c.2313dup	NP_001351110.1:p.Leu772ThrfsTer27
NM_001364183.2:c.2316dup	NP_001351112.1:p.Leu773ThrfsTer27
NM_001364184.2:c.2316dup	NP_001351113.1:p.Leu773ThrfsTer27
NR_157096.2:n.1236dup