Canonical Allele Identifier: CA919590737

Gene: CYP11A1

Linked Data

• dbSNP Id: rs1596160722
• gnomAD v3: 15-74345451-AAG-A
• gnomAD v4: 15-74345451-AAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74345456_74345457del , CM000677.2:g.74345456_74345457del	GRCh38
NC_000015.9:g.74637797_74637798del , CM000677.1:g.74637797_74637798del	GRCh37
NC_000015.8:g.72424850_72424851del	NCBI36
NG_007973.1:g.27289_27290del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268053.11:c.426-210_426-209del MANE Select	ENSP00000268053.6:n.426-210_426-209del
ENST00000268053.10:c.426-210_426-209del	ENSP00000268053.6:n.426-210_426-209del
ENST00000358632.8:c.-49-210_-49-209del	ENSP00000351455.4:n.-49-210_-49-209del
ENST00000416978.1:c.426-163_426-162del	ENSP00000388018.1:n.426-163_426-162del
ENST00000435365.5:c.426-210_426-209del	ENSP00000391081.1:n.426-210_426-209del
ENST00000450547.1:c.-49-210_-49-209del	ENSP00000402064.1:n.-49-210_-49-209del
ENST00000466978.1:n.820-210_820-209del
ENST00000566674.5:c.-49-210_-49-209del	ENSP00000456941.1:n.-49-210_-49-209del
ENST00000569662.1:c.-49-210_-49-209del	ENSP00000456598.1:n.-49-210_-49-209del
NM_000781.2:c.426-210_426-209del	NP_000772.2:n.426-210_426-209del
NM_001099773.1:c.-49-210_-49-209del	NP_001093243.1:n.-49-210_-49-209del
NM_000781.3:c.426-210_426-209del MANE Select	NP_000772.2:n.426-210_426-209del
NM_001099773.2:c.-49-210_-49-209del	NP_001093243.1:n.-49-210_-49-209del