Canonical Allele Identifier: CA2558086872

Gene: CYP11B1 GML

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142879078_142879079insA , CM000670.2:g.142879078_142879079insA	GRCh38
NC_000008.10:g.143960494_143960495insA , CM000670.1:g.143960494_143960495insA	GRCh37
NC_000008.9:g.143957496_143957497insA	NCBI36
NG_007954.1:g.5742_5743insT

Transcript Alleles

HGVS	Amino-acid change
ENST00000292427.10:c.348_349insT (CYP11B1) MANE Select	ENSP00000292427.5:p.Val117CysfsTer20
ENST00000292427.8:c.348_349insT (CYP11B1)	ENSP00000292427.4:p.Val117CysfsTer20
ENST00000314111.4:n.381_382insT (CYP11B1)
ENST00000377675.3:c.483_484insT (CYP11B1)	ENSP00000366903.3:p.Val162CysfsTer20
ENST00000517471.5:c.348_349insT (CYP11B1)	ENSP00000428043.1:p.Val117CysfsTer20
ENST00000522728.5:c.182-34885_182-34884insA (GML)	ENSP00000430799.1:n.182-34885_182-34884insA
NM_000497.3:c.348_349insT (CYP11B1)	NP_000488.3:p.Val117CysfsTer20
NM_001026213.1:c.348_349insT (CYP11B1)	NP_001021384.1:p.Val117CysfsTer20
XM_011516870.1:c.348_349insT (CYP11B1)	XP_011515172.1:p.Val117CysfsTer20
XM_011516871.1:c.348_349insT (CYP11B1)	XP_011515173.1:p.Val117CysfsTer20
XM_011516872.1:c.348_349insT (CYP11B1)	XP_011515174.1:p.Val117CysfsTer20
XM_011516873.1:c.348_349insT (CYP11B1)	XP_011515175.1:p.Val117CysfsTer20
XM_011516874.1:c.348_349insT (CYP11B1)	XP_011515176.1:p.Val117CysfsTer20
XM_011516875.1:c.87_88insT (CYP11B1)	XP_011515177.1:p.Val30CysfsTer20
XM_011516876.1:c.348_349insT (CYP11B1)	XP_011515178.1:p.Val117CysfsTer20
XM_011516970.1:c.215-34885_215-34884insA (GML)	XP_011515272.1:n.215-34885_215-34884insA
NM_000497.4:c.348_349insT (CYP11B1) MANE Select	NP_000488.3:p.Val117CysfsTer20