Canonical Allele Identifier: CA129252256

Gene: NR3C1

Linked Data

• dbSNP Id: rs905360069
• gnomAD v4: 5-143282191-CAAA-C
• MyVariant Identifiers: chr5:g.142661757_142661759del (hg19) ; chr5:g.143282192_143282194del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.143282193_143282195del , CM000667.2:g.143282193_143282195del	GRCh38
NC_000005.9:g.142661758_142661760del , CM000667.1:g.142661758_142661760del	GRCh37
NC_000005.8:g.142641951_142641953del	NCBI36
NG_009062.1:g.158319_158321del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394464.7:c.2182-153_2182-151del MANE Select	ENSP00000377977.2:n.2182-153_2182-151del
ENST00000652686.1:c.2089-153_2089-151del	ENSP00000498663.1:n.2089-153_2089-151del
ENST00000231509.7:c.2185-153_2185-151del	ENSP00000231509.3:n.2185-153_2185-151del
ENST00000343796.6:c.2182-153_2182-151del	ENSP00000343205.2:n.2182-153_2182-151del
ENST00000394464.6:c.2182-153_2182-151del	ENSP00000377977.2:n.2182-153_2182-151del
ENST00000394466.6:c.2185-153_2185-151del	ENSP00000377979.2:n.2185-153_2185-151del
ENST00000415690.6:c.2181+374_2181+376del	ENSP00000387672.2:n.2181+374_2181+376del
ENST00000424646.6:c.2104-153_2104-151del	ENSP00000405282.2:n.2104-153_2104-151del
ENST00000503201.1:c.2182-153_2182-151del	ENSP00000427672.1:n.2182-153_2182-151del
ENST00000504572.5:c.2185-153_2185-151del	ENSP00000422518.1:n.2185-153_2185-151del
NM_000176.2:c.2182-153_2182-151del	NP_000167.1:n.2182-153_2182-151del
NM_001018074.1:c.2182-153_2182-151del	NP_001018084.1:n.2182-153_2182-151del
NM_001018075.1:c.2182-153_2182-151del	NP_001018085.1:n.2182-153_2182-151del
NM_001018076.1:c.2182-153_2182-151del	NP_001018086.1:n.2182-153_2182-151del
NM_001018077.1:c.2182-153_2182-151del	NP_001018087.1:n.2182-153_2182-151del
NM_001020825.1:c.2181+374_2181+376del	NP_001018661.1:n.2181+374_2181+376del
NM_001024094.1:c.2185-153_2185-151del	NP_001019265.1:n.2185-153_2185-151del
NM_001204258.1:c.2104-153_2104-151del	NP_001191187.1:n.2104-153_2104-151del
NM_001204259.1:c.1927-153_1927-151del	NP_001191188.1:n.1927-153_1927-151del
NM_001204260.1:c.1915-153_1915-151del	NP_001191189.1:n.1915-153_1915-151del
NM_001204261.1:c.1891-153_1891-151del	NP_001191190.1:n.1891-153_1891-151del
NM_001204262.1:c.1237-153_1237-151del	NP_001191191.1:n.1237-153_1237-151del
NM_001204263.1:c.1192-153_1192-151del	NP_001191192.1:n.1192-153_1192-151del
NM_001204264.1:c.1177-153_1177-151del	NP_001191193.1:n.1177-153_1177-151del
XM_005268419.2:c.2185-153_2185-151del	XP_005268476.1:n.2185-153_2185-151del
XM_005268420.3:c.2185-153_2185-151del	XP_005268477.1:n.2185-153_2185-151del
XM_005268422.2:c.2185-153_2185-151del	XP_005268479.1:n.2185-153_2185-151del
XM_005268423.2:c.2185-153_2185-151del	XP_005268480.1:n.2185-153_2185-151del
XM_011537637.1:c.991-153_991-151del	XP_011535939.1:n.991-153_991-151del
XR_944371.1:n.656-2506_656-2504del
NR_157096.1:n.1105-153_1105-151del
XM_005268419.4:c.2185-153_2185-151del	XP_005268476.1:n.2185-153_2185-151del
XM_005268420.4:c.2185-153_2185-151del	XP_005268477.1:n.2185-153_2185-151del
XM_005268422.3:c.2185-153_2185-151del	XP_005268479.1:n.2185-153_2185-151del
XM_005268423.3:c.2185-153_2185-151del	XP_005268480.1:n.2185-153_2185-151del
XM_011537637.3:c.991-153_991-151del	XP_011535939.1:n.991-153_991-151del
XM_017009397.1:c.2182-153_2182-151del	XP_016864886.1:n.2182-153_2182-151del
XM_017009398.1:c.2182-153_2182-151del	XP_016864887.1:n.2182-153_2182-151del
NM_000176.3:c.2182-153_2182-151del MANE Select	NP_000167.1:n.2182-153_2182-151del
NM_001364180.1:c.2182-153_2182-151del	NP_001351109.1:n.2182-153_2182-151del
NM_001364181.1:c.2182-153_2182-151del	NP_001351110.1:n.2182-153_2182-151del
NM_001364182.1:c.2182-153_2182-151del	NP_001351111.1:n.2182-153_2182-151del
NM_001364183.1:c.2185-153_2185-151del	NP_001351112.1:n.2185-153_2185-151del
NM_001364184.1:c.2185-153_2185-151del	NP_001351113.1:n.2185-153_2185-151del
NM_001364185.1:c.2185-153_2185-151del	NP_001351114.1:n.2185-153_2185-151del
NM_001018076.2:c.2182-153_2182-151del	NP_001018086.1:n.2182-153_2182-151del
NM_001020825.2:c.2181+374_2181+376del	NP_001018661.1:n.2181+374_2181+376del
NM_001024094.2:c.2185-153_2185-151del	NP_001019265.1:n.2185-153_2185-151del
NM_001204258.2:c.2104-153_2104-151del	NP_001191187.1:n.2104-153_2104-151del
NM_001204259.2:c.1927-153_1927-151del	NP_001191188.1:n.1927-153_1927-151del
NM_001204260.2:c.1915-153_1915-151del	NP_001191189.1:n.1915-153_1915-151del
NM_001204261.2:c.1891-153_1891-151del	NP_001191190.1:n.1891-153_1891-151del
NM_001204262.2:c.1237-153_1237-151del	NP_001191191.1:n.1237-153_1237-151del
NM_001204263.2:c.1192-153_1192-151del	NP_001191192.1:n.1192-153_1192-151del
NM_001204264.2:c.1177-153_1177-151del	NP_001191193.1:n.1177-153_1177-151del
NM_001364180.2:c.2182-153_2182-151del	NP_001351109.1:n.2182-153_2182-151del
NM_001364181.2:c.2182-153_2182-151del	NP_001351110.1:n.2182-153_2182-151del
NM_001364183.2:c.2185-153_2185-151del	NP_001351112.1:n.2185-153_2185-151del
NM_001364184.2:c.2185-153_2185-151del	NP_001351113.1:n.2185-153_2185-151del
NR_157096.2:n.1105-153_1105-151del