Canonical Allele Identifier: CA2187643690

Gene: CYP11A1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74347783_74347784delinsAG , CM000677.2:g.74347783_74347784delinsAG	GRCh38
NC_000015.9:g.74640124_74640125delinsAG , CM000677.1:g.74640124_74640125delinsAG	GRCh37
NC_000015.8:g.72427177_72427178delinsAG	NCBI36
NG_007973.1:g.24958_24959delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268053.11:c.425+116_425+117delinsCT MANE Select	ENSP00000268053.6:n.425+116_425+117delinsCT
ENST00000268053.10:c.425+116_425+117delinsCT	ENSP00000268053.6:n.425+116_425+117delinsCT
ENST00000358632.8:c.-50+116_-50+117delinsCT	ENSP00000351455.4:n.-50+116_-50+117delinsCT
ENST00000416978.1:c.425+116_425+117delinsCT	ENSP00000388018.1:n.425+116_425+117delinsCT
ENST00000435365.5:c.425+116_425+117delinsCT	ENSP00000391081.1:n.425+116_425+117delinsCT
ENST00000450547.1:c.-50+116_-50+117delinsCT	ENSP00000402064.1:n.-50+116_-50+117delinsCT
ENST00000466978.1:n.819+116_819+117delinsCT
ENST00000566674.5:c.-50+116_-50+117delinsCT	ENSP00000456941.1:n.-50+116_-50+117delinsCT
ENST00000569662.1:c.-49-2541_-49-2540delinsCT	ENSP00000456598.1:n.-49-2541_-49-2540delinsCT
NM_000781.2:c.425+116_425+117delinsCT	NP_000772.2:n.425+116_425+117delinsCT
NM_001099773.1:c.-50+116_-50+117delinsCT	NP_001093243.1:n.-50+116_-50+117delinsCT
NM_000781.3:c.425+116_425+117delinsCT MANE Select	NP_000772.2:n.425+116_425+117delinsCT
NM_001099773.2:c.-50+116_-50+117delinsCT	NP_001093243.1:n.-50+116_-50+117delinsCT