Canonical Allele Identifier: CA2838534311

Gene: CYP11A1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74339622dup , CM000677.2:g.74339622dup	GRCh38
NC_000015.9:g.74631963dup , CM000677.1:g.74631963dup	GRCh37
NC_000015.8:g.72419016dup	NCBI36
NG_007973.1:g.33124dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268053.11:c.1126dup MANE Select	ENSP00000268053.6:p.Leu376ProfsTer26
ENST00000268053.10:c.1126dup	ENSP00000268053.6:p.Leu376ProfsTer26
ENST00000358632.8:c.652dup	ENSP00000351455.4:p.Leu218ProfsTer26
ENST00000435365.5:c.1126dup	ENSP00000391081.1:p.Leu376ProfsTer?
ENST00000566674.5:c.652dup	ENSP00000456941.1:p.Leu218ProfsTer?
NM_000781.2:c.1126dup	NP_000772.2:p.Leu376ProfsTer26
NM_001099773.1:c.652dup	NP_001093243.1:p.Leu218ProfsTer26
NM_000781.3:c.1126dup MANE Select	NP_000772.2:p.Leu376ProfsTer26
NM_001099773.2:c.652dup	NP_001093243.1:p.Leu218ProfsTer26