Canonical Allele Identifier: CA563123344

Gene: NR3C1

Linked Data

• dbSNP Id: rs1487449319
• gnomAD v2: 5-142805973-AATT-A
• gnomAD v3: 5-143426408-AATT-A
• gnomAD v4: 5-143426408-AATT-A
• MyVariant Identifiers: chr5:g.142805974_142805976del (hg19) ; chr5:g.143426409_143426411del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.143426413_143426415del , CM000667.2:g.143426413_143426415del	GRCh38
NC_000005.9:g.142805978_142805980del , CM000667.1:g.142805978_142805980del	GRCh37
NC_000005.8:g.142786171_142786173del	NCBI36
NG_009062.1:g.14102_14104del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343796.6:c.-14+8121_-14+8123del	ENSP00000343205.2:n.-14+8121_-14+8123del
ENST00000503701.1:n.352+7308_352+7310del
ENST00000504572.5:c.-14+7308_-14+7310del	ENSP00000422518.1:n.-14+7308_-14+7310del
ENST00000505058.5:n.241+8121_241+8123del
NM_001018074.1:c.-14+8793_-14+8795del	NP_001018084.1:n.-14+8793_-14+8795del
NM_001018075.1:c.-14+8890_-14+8892del	NP_001018085.1:n.-14+8890_-14+8892del
NM_001018077.1:c.-14+8121_-14+8123del	NP_001018087.1:n.-14+8121_-14+8123del
XM_005268422.2:c.-14+8121_-14+8123del	XP_005268479.1:n.-14+8121_-14+8123del
XM_005268422.3:c.-14+8121_-14+8123del	XP_005268479.1:n.-14+8121_-14+8123del
NM_001364183.1:c.-14+7308_-14+7310del	NP_001351112.1:n.-14+7308_-14+7310del
NM_001364183.2:c.-14+7308_-14+7310del	NP_001351112.1:n.-14+7308_-14+7310del