Canonical Allele Identifier: CA10618083

Gene: NR3C2

Linked Data

• ClinVar Variation Id: 347746
• ClinVar RCV Id: RCV000345906
• dbSNP Id: rs540712695
• gnomAD v2: 4-149363569-GGGGGCA-G
• gnomAD v3: 4-148442417-GGGGGCA-G
• gnomAD v4: 4-148442417-GGGGGCA-G
• MyVariant Identifiers: chr4:g.149363570_149363575del (hg19) ; chr4:g.148442418_148442423del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.148442433_148442438del , CM000666.2:g.148442433_148442438del	GRCh38
NC_000004.11:g.149363585_149363590del , CM000666.1:g.149363585_149363590del	GRCh37
NC_000004.10:g.149583035_149583040del	NCBI36
NG_013350.1:g.5098_5103del

Transcript Alleles

HGVS	Amino-acid change
ENST00000344721.8:c.-3+2103_-3+2108del	ENSP00000341390.4:n.-3+2103_-3+2108del
ENST00000358102.7:c.-266_-261del	ENSP00000350815.3:n.-266_-261del
ENST00000625323.2:c.-266_-261del	ENSP00000486719.1:n.-266_-261del
NM_000901.4:c.-266_-261del	NP_000892.2:n.-266_-261del
NM_001166104.1:c.-266_-261del	NP_001159576.1:n.-266_-261del
XM_011531975.1:c.-266_-261del	XP_011530277.1:n.-266_-261del
XM_011531976.1:c.-3+2103_-3+2108del	XP_011530278.1:n.-3+2103_-3+2108del
XM_011531977.1:c.-3+2777_-3+2782del	XP_011530279.1:n.-3+2777_-3+2782del
XM_011531978.1:c.-266_-261del	XP_011530280.1:n.-266_-261del
NM_001354819.1:c.-3+2103_-3+2108del	NP_001341748.1:n.-3+2103_-3+2108del
NR_148974.1:n.98_103del
XM_011531978.2:c.-266_-261del	XP_011530280.1:n.-266_-261del