Canonical Allele Identifier: CA2187637974

Gene: CYP11A1

Linked Data

• dbSNP Id: rs2060597524

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74339680_74339681insGGG , CM000677.2:g.74339680_74339681insGGG	GRCh38
NC_000015.9:g.74632021_74632022insGGG , CM000677.1:g.74632021_74632022insGGG	GRCh37
NC_000015.8:g.72419074_72419075insGGG	NCBI36
NG_007973.1:g.33061_33062insCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268053.11:c.1063_1064insCCC MANE Select	ENSP00000268053.6:p.Glu355delinsAlaGln
ENST00000268053.10:c.1063_1064insCCC	ENSP00000268053.6:p.Glu355delinsAlaGln
ENST00000358632.8:c.589_590insCCC	ENSP00000351455.4:p.Glu197delinsAlaGln
ENST00000435365.5:c.1063_1064insCCC	ENSP00000391081.1:p.Glu355delinsAlaGln
ENST00000566674.5:c.589_590insCCC	ENSP00000456941.1:p.Glu197delinsAlaGln
NM_000781.2:c.1063_1064insCCC	NP_000772.2:p.Glu355delinsAlaGln
NM_001099773.1:c.589_590insCCC	NP_001093243.1:p.Glu197delinsAlaGln
NM_000781.3:c.1063_1064insCCC MANE Select	NP_000772.2:p.Glu355delinsAlaGln
NM_001099773.2:c.589_590insCCC	NP_001093243.1:p.Glu197delinsAlaGln