Canonical Allele Identifier: CA2675766880

Gene: NR3C1

Linked Data

• gnomAD v4: 5-143300725-CCTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.143300729_143300731del , CM000667.2:g.143300729_143300731del	GRCh38
NC_000005.9:g.142680294_142680296del , CM000667.1:g.142680294_142680296del	GRCh37
NC_000005.8:g.142660487_142660489del	NCBI36
NG_009062.1:g.139785_139787del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394464.7:c.1504_1506del MANE Select	ENSP00000377977.2:p.Gln502del
ENST00000652686.1:c.1504_1506del	ENSP00000498663.1:p.Gln502del
ENST00000231509.7:c.1507_1509del	ENSP00000231509.3:p.Gln503del
ENST00000343796.6:c.1504_1506del	ENSP00000343205.2:p.Gln502del
ENST00000394464.6:c.1504_1506del	ENSP00000377977.2:p.Gln502del
ENST00000394466.6:c.1507_1509del	ENSP00000377979.2:p.Gln503del
ENST00000415690.6:c.1504_1506del	ENSP00000387672.2:p.Gln502del
ENST00000424646.6:c.1426_1428del	ENSP00000405282.2:p.Gln476del
ENST00000503201.1:c.1504_1506del	ENSP00000427672.1:p.Gln502del
ENST00000504336.1:n.444_446del
ENST00000504572.5:c.1507_1509del	ENSP00000422518.1:p.Gln503del
NM_000176.2:c.1504_1506del	NP_000167.1:p.Gln502del
NM_001018074.1:c.1504_1506del	NP_001018084.1:p.Gln502del
NM_001018075.1:c.1504_1506del	NP_001018085.1:p.Gln502del
NM_001018076.1:c.1504_1506del	NP_001018086.1:p.Gln502del
NM_001018077.1:c.1504_1506del	NP_001018087.1:p.Gln502del
NM_001020825.1:c.1504_1506del	NP_001018661.1:p.Gln502del
NM_001024094.1:c.1507_1509del	NP_001019265.1:p.Gln503del
NM_001204258.1:c.1426_1428del	NP_001191187.1:p.Gln476del
NM_001204259.1:c.1249_1251del	NP_001191188.1:p.Gln417del
NM_001204260.1:c.1237_1239del	NP_001191189.1:p.Gln413del
NM_001204261.1:c.1213_1215del	NP_001191190.1:p.Gln405del
NM_001204262.1:c.559_561del	NP_001191191.1:p.Gln187del
NM_001204263.1:c.514_516del	NP_001191192.1:p.Gln172del
NM_001204264.1:c.499_501del	NP_001191193.1:p.Gln167del
NM_001204265.1:c.1504_1506del	NP_001191194.1:p.Gln502del
XM_005268419.2:c.1507_1509del	XP_005268476.1:p.Gln503del
XM_005268420.3:c.1507_1509del	XP_005268477.1:p.Gln503del
XM_005268422.2:c.1507_1509del	XP_005268479.1:p.Gln503del
XM_005268423.2:c.1507_1509del	XP_005268480.1:p.Gln503del
XM_011537637.1:c.313_315del	XP_011535939.1:p.Gln105del
NR_157096.1:n.427_429del
XM_005268419.4:c.1507_1509del	XP_005268476.1:p.Gln503del
XM_005268420.4:c.1507_1509del	XP_005268477.1:p.Gln503del
XM_005268422.3:c.1507_1509del	XP_005268479.1:p.Gln503del
XM_005268423.3:c.1507_1509del	XP_005268480.1:p.Gln503del
XM_011537637.3:c.313_315del	XP_011535939.1:p.Gln105del
XM_017009397.1:c.1504_1506del	XP_016864886.1:p.Gln502del
XM_017009398.1:c.1504_1506del	XP_016864887.1:p.Gln502del
NM_000176.3:c.1504_1506del MANE Select	NP_000167.1:p.Gln502del
NM_001364180.1:c.1504_1506del	NP_001351109.1:p.Gln502del
NM_001364181.1:c.1504_1506del	NP_001351110.1:p.Gln502del
NM_001364182.1:c.1504_1506del	NP_001351111.1:p.Gln502del
NM_001364183.1:c.1507_1509del	NP_001351112.1:p.Gln503del
NM_001364184.1:c.1507_1509del	NP_001351113.1:p.Gln503del
NM_001364185.1:c.1507_1509del	NP_001351114.1:p.Gln503del
NM_001018076.2:c.1504_1506del	NP_001018086.1:p.Gln502del
NM_001020825.2:c.1504_1506del	NP_001018661.1:p.Gln502del
NM_001024094.2:c.1507_1509del	NP_001019265.1:p.Gln503del
NM_001204258.2:c.1426_1428del	NP_001191187.1:p.Gln476del
NM_001204259.2:c.1249_1251del	NP_001191188.1:p.Gln417del
NM_001204260.2:c.1237_1239del	NP_001191189.1:p.Gln413del
NM_001204261.2:c.1213_1215del	NP_001191190.1:p.Gln405del
NM_001204262.2:c.559_561del	NP_001191191.1:p.Gln187del
NM_001204263.2:c.514_516del	NP_001191192.1:p.Gln172del
NM_001204264.2:c.499_501del	NP_001191193.1:p.Gln167del
NM_001204265.2:c.1504_1506del	NP_001191194.1:p.Gln502del
NM_001364180.2:c.1504_1506del	NP_001351109.1:p.Gln502del
NM_001364181.2:c.1504_1506del	NP_001351110.1:p.Gln502del
NM_001364183.2:c.1507_1509del	NP_001351112.1:p.Gln503del
NM_001364184.2:c.1507_1509del	NP_001351113.1:p.Gln503del
NR_157096.2:n.427_429del