Canonical Allele Identifier: CA2499219135

Gene: CYP11B1 GML

Linked Data

• ClinVar Variation Id: 1131019
• ClinVar RCV Id: RCV001464735
• dbSNP Id: rs2130284679

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142879180_142879181delinsGA , CM000670.2:g.142879180_142879181delinsGA	GRCh38
NC_000008.10:g.143960596_143960597delinsGA , CM000670.1:g.143960596_143960597delinsGA	GRCh37
NC_000008.9:g.143957598_143957599delinsGA	NCBI36
NG_007954.1:g.5640_5641delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292427.10:c.246_247delinsTC (CYP11B1) MANE Select	ENSP00000292427.5:p.Asp82=
ENST00000292427.8:c.246_247delinsTC (CYP11B1)	ENSP00000292427.4:p.Asp82=
ENST00000314111.4:n.279_280delinsTC (CYP11B1)
ENST00000377675.3:c.381_382delinsTC (CYP11B1)	ENSP00000366903.3:p.Asp127=
ENST00000517471.5:c.246_247delinsTC (CYP11B1)	ENSP00000428043.1:p.Asp82=
ENST00000522728.5:c.182-34783_182-34782delinsGA (GML)	ENSP00000430799.1:n.182-34783_182-34782delinsGA
NM_000497.3:c.246_247delinsTC (CYP11B1)	NP_000488.3:p.Asp82=
NM_001026213.1:c.246_247delinsTC (CYP11B1)	NP_001021384.1:p.Asp82=
XM_011516870.1:c.246_247delinsTC (CYP11B1)	XP_011515172.1:p.Asp82=
XM_011516871.1:c.246_247delinsTC (CYP11B1)	XP_011515173.1:p.Asp82=
XM_011516872.1:c.246_247delinsTC (CYP11B1)	XP_011515174.1:p.Asp82=
XM_011516873.1:c.246_247delinsTC (CYP11B1)	XP_011515175.1:p.Asp82=
XM_011516874.1:c.246_247delinsTC (CYP11B1)	XP_011515176.1:p.Asp82=
XM_011516875.1:c.-16_-15delinsTC (CYP11B1)	XP_011515177.1:n.-16_-15delinsTC
XM_011516876.1:c.246_247delinsTC (CYP11B1)	XP_011515178.1:p.Asp82=
XM_011516970.1:c.215-34783_215-34782delinsGA (GML)	XP_011515272.1:n.215-34783_215-34782delinsGA
NM_000497.4:c.246_247delinsTC (CYP11B1) MANE Select	NP_000488.3:p.Asp82=