Canonical Allele Identifier: CA2580078658

Gene: CYP11B1 GML

Linked Data

• ClinVar Variation Id: 2023183
• ClinVar RCV Id: RCV002857759

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142876374del , CM000670.2:g.142876374del	GRCh38
NC_000008.10:g.143957790del , CM000670.1:g.143957790del	GRCh37
NC_000008.9:g.143954792del	NCBI36
NG_007954.1:g.8447del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292427.10:c.821del (CYP11B1) MANE Select	ENSP00000292427.5:p.Ile274ThrfsTer22
ENST00000292427.8:c.821del (CYP11B1)	ENSP00000292427.4:p.Ile274ThrfsTer22
ENST00000314111.4:n.854del (CYP11B1)
ENST00000377675.3:c.1034del (CYP11B1)	ENSP00000366903.3:p.Ile345ThrfsTer22
ENST00000517471.5:c.821del (CYP11B1)	ENSP00000428043.1:p.Ile274ThrfsTer22
ENST00000522728.5:c.181+35149del (GML)	ENSP00000430799.1:n.181+35149del
NM_000497.3:c.821del (CYP11B1)	NP_000488.3:p.Ile274ThrfsTer22
NM_001026213.1:c.821del (CYP11B1)	NP_001021384.1:p.Ile274ThrfsTer22
XM_011516870.1:c.899del (CYP11B1)	XP_011515172.1:p.Ile300ThrfsTer22
XM_011516871.1:c.899del (CYP11B1)	XP_011515173.1:p.Ile300ThrfsTer22
XM_011516872.1:c.821del (CYP11B1)	XP_011515174.1:p.Ile274ThrfsTer22
XM_011516873.1:c.899del (CYP11B1)	XP_011515175.1:p.Ile300ThrfsTer22
XM_011516874.1:c.899del (CYP11B1)	XP_011515176.1:p.Ile300ThrfsTer22
XM_011516875.1:c.638del (CYP11B1)	XP_011515177.1:p.Ile213ThrfsTer22
XM_011516876.1:c.899del (CYP11B1)	XP_011515178.1:p.Ile300ThrfsTer22
XM_011516970.1:c.214+35149del (GML)	XP_011515272.1:n.214+35149del
NM_000497.4:c.821del (CYP11B1) MANE Select	NP_000488.3:p.Ile274ThrfsTer22