Canonical Allele Identifier: CA2566058745

Gene: NR3C1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.143300548_143300549del , CM000667.2:g.143300548_143300549del	GRCh38
NC_000005.9:g.142680113_142680114del , CM000667.1:g.142680113_142680114del	GRCh37
NC_000005.8:g.142660306_142660307del	NCBI36
NG_009062.1:g.139964_139965del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394464.7:c.1683_1684del MANE Select	ENSP00000377977.2:p.Thr562AlafsTer29
ENST00000652686.1:c.1590_1591del	ENSP00000498663.1:p.Thr531AlafsTer29
ENST00000231509.7:c.1686_1687del	ENSP00000231509.3:p.Thr563AlafsTer29
ENST00000343796.6:c.1683_1684del	ENSP00000343205.2:p.Thr562AlafsTer29
ENST00000394464.6:c.1683_1684del	ENSP00000377977.2:p.Thr562AlafsTer29
ENST00000394466.6:c.1686_1687del	ENSP00000377979.2:p.Thr563AlafsTer29
ENST00000415690.6:c.1683_1684del	ENSP00000387672.2:p.Thr562AlafsTer29
ENST00000424646.6:c.1605_1606del	ENSP00000405282.2:p.Thr536AlafsTer29
ENST00000503201.1:c.1683_1684del	ENSP00000427672.1:p.Thr562AlafsTer29
ENST00000504572.5:c.1686_1687del	ENSP00000422518.1:p.Thr563AlafsTer29
NM_000176.2:c.1683_1684del	NP_000167.1:p.Thr562AlafsTer29
NM_001018074.1:c.1683_1684del	NP_001018084.1:p.Thr562AlafsTer29
NM_001018075.1:c.1683_1684del	NP_001018085.1:p.Thr562AlafsTer29
NM_001018076.1:c.1683_1684del	NP_001018086.1:p.Thr562AlafsTer29
NM_001018077.1:c.1683_1684del	NP_001018087.1:p.Thr562AlafsTer29
NM_001020825.1:c.1683_1684del	NP_001018661.1:p.Thr562AlafsTer29
NM_001024094.1:c.1686_1687del	NP_001019265.1:p.Thr563AlafsTer29
NM_001204258.1:c.1605_1606del	NP_001191187.1:p.Thr536AlafsTer29
NM_001204259.1:c.1428_1429del	NP_001191188.1:p.Thr477AlafsTer29
NM_001204260.1:c.1416_1417del	NP_001191189.1:p.Thr473AlafsTer29
NM_001204261.1:c.1392_1393del	NP_001191190.1:p.Thr465AlafsTer29
NM_001204262.1:c.738_739del	NP_001191191.1:p.Thr247AlafsTer29
NM_001204263.1:c.693_694del	NP_001191192.1:p.Thr232AlafsTer29
NM_001204264.1:c.678_679del	NP_001191193.1:p.Thr227AlafsTer29
NM_001204265.1:c.1683_1684del	NP_001191194.1:p.Thr562AlafsTer29
XM_005268419.2:c.1686_1687del	XP_005268476.1:p.Thr563AlafsTer29
XM_005268420.3:c.1686_1687del	XP_005268477.1:p.Thr563AlafsTer29
XM_005268422.2:c.1686_1687del	XP_005268479.1:p.Thr563AlafsTer29
XM_005268423.2:c.1686_1687del	XP_005268480.1:p.Thr563AlafsTer29
XM_011537637.1:c.492_493del	XP_011535939.1:p.Thr165AlafsTer29
NR_157096.1:n.606_607del
XM_005268419.4:c.1686_1687del	XP_005268476.1:p.Thr563AlafsTer29
XM_005268420.4:c.1686_1687del	XP_005268477.1:p.Thr563AlafsTer29
XM_005268422.3:c.1686_1687del	XP_005268479.1:p.Thr563AlafsTer29
XM_005268423.3:c.1686_1687del	XP_005268480.1:p.Thr563AlafsTer29
XM_011537637.3:c.492_493del	XP_011535939.1:p.Thr165AlafsTer29
XM_017009397.1:c.1683_1684del	XP_016864886.1:p.Thr562AlafsTer29
XM_017009398.1:c.1683_1684del	XP_016864887.1:p.Thr562AlafsTer29
NM_000176.3:c.1683_1684del MANE Select	NP_000167.1:p.Thr562AlafsTer29
NM_001364180.1:c.1683_1684del	NP_001351109.1:p.Thr562AlafsTer29
NM_001364181.1:c.1683_1684del	NP_001351110.1:p.Thr562AlafsTer29
NM_001364182.1:c.1683_1684del	NP_001351111.1:p.Thr562AlafsTer29
NM_001364183.1:c.1686_1687del	NP_001351112.1:p.Thr563AlafsTer29
NM_001364184.1:c.1686_1687del	NP_001351113.1:p.Thr563AlafsTer29
NM_001364185.1:c.1686_1687del	NP_001351114.1:p.Thr563AlafsTer29
NM_001018076.2:c.1683_1684del	NP_001018086.1:p.Thr562AlafsTer29
NM_001020825.2:c.1683_1684del	NP_001018661.1:p.Thr562AlafsTer29
NM_001024094.2:c.1686_1687del	NP_001019265.1:p.Thr563AlafsTer29
NM_001204258.2:c.1605_1606del	NP_001191187.1:p.Thr536AlafsTer29
NM_001204259.2:c.1428_1429del	NP_001191188.1:p.Thr477AlafsTer29
NM_001204260.2:c.1416_1417del	NP_001191189.1:p.Thr473AlafsTer29
NM_001204261.2:c.1392_1393del	NP_001191190.1:p.Thr465AlafsTer29
NM_001204262.2:c.738_739del	NP_001191191.1:p.Thr247AlafsTer29
NM_001204263.2:c.693_694del	NP_001191192.1:p.Thr232AlafsTer29
NM_001204264.2:c.678_679del	NP_001191193.1:p.Thr227AlafsTer29
NM_001204265.2:c.1683_1684del	NP_001191194.1:p.Thr562AlafsTer29
NM_001364180.2:c.1683_1684del	NP_001351109.1:p.Thr562AlafsTer29
NM_001364181.2:c.1683_1684del	NP_001351110.1:p.Thr562AlafsTer29
NM_001364183.2:c.1686_1687del	NP_001351112.1:p.Thr563AlafsTer29
NM_001364184.2:c.1686_1687del	NP_001351113.1:p.Thr563AlafsTer29
NR_157096.2:n.606_607del