Canonical Allele Identifier: CA2580078617

Gene: CYP11B1 GML

Linked Data

• ClinVar Variation Id: 1907719
• ClinVar RCV Id: RCV002596465
• gnomAD v4: 8-142879034-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142879036del , CM000670.2:g.142879036del	GRCh38
NC_000008.10:g.143960452del , CM000670.1:g.143960452del	GRCh37
NC_000008.9:g.143957454del	NCBI36
NG_007954.1:g.5786del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292427.10:c.392del (CYP11B1) MANE Select	ENSP00000292427.5:p.Leu131CysfsTer2
ENST00000292427.8:c.392del (CYP11B1)	ENSP00000292427.4:p.Leu131CysfsTer2
ENST00000314111.4:n.425del (CYP11B1)
ENST00000377675.3:c.527del (CYP11B1)	ENSP00000366903.3:p.Leu176CysfsTer2
ENST00000517471.5:c.392del (CYP11B1)	ENSP00000428043.1:p.Leu131CysfsTer2
ENST00000522728.5:c.182-34927del (GML)	ENSP00000430799.1:n.182-34927del
NM_000497.3:c.392del (CYP11B1)	NP_000488.3:p.Leu131CysfsTer2
NM_001026213.1:c.392del (CYP11B1)	NP_001021384.1:p.Leu131CysfsTer2
XM_011516870.1:c.392del (CYP11B1)	XP_011515172.1:p.Leu131CysfsTer2
XM_011516871.1:c.392del (CYP11B1)	XP_011515173.1:p.Leu131CysfsTer2
XM_011516872.1:c.392del (CYP11B1)	XP_011515174.1:p.Leu131CysfsTer2
XM_011516873.1:c.392del (CYP11B1)	XP_011515175.1:p.Leu131CysfsTer2
XM_011516874.1:c.392del (CYP11B1)	XP_011515176.1:p.Leu131CysfsTer2
XM_011516875.1:c.131del (CYP11B1)	XP_011515177.1:p.Leu44CysfsTer2
XM_011516876.1:c.392del (CYP11B1)	XP_011515178.1:p.Leu131CysfsTer2
XM_011516970.1:c.215-34927del (GML)	XP_011515272.1:n.215-34927del
NM_000497.4:c.392del (CYP11B1) MANE Select	NP_000488.3:p.Leu131CysfsTer2