Canonical Allele Identifier: CA2187637948
Gene: CYP11A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74339665_74339668delinsCGCG , CM000677.2:g.74339665_74339668delinsCGCG GRCh38
NC_000015.9:g.74632006_74632009delinsCGCG , CM000677.1:g.74632006_74632009delinsCGCG GRCh37
NC_000015.8:g.72419059_72419062delinsCGCG NCBI36
NG_007973.1:g.33074_33077delinsCGCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000268053.11:c.1076_1079delinsCGCG MANE Select ENSP00000268053.6:p.Ala359=
ENST00000268053.10:c.1076_1079delinsCGCG ENSP00000268053.6:p.Ala359=
ENST00000358632.8:c.602_605delinsCGCG ENSP00000351455.4:p.Ala201=
ENST00000435365.5:c.1076_1079delinsCGCG ENSP00000391081.1:p.Ala359=
ENST00000566674.5:c.602_605delinsCGCG ENSP00000456941.1:p.Ala201=
NM_000781.2:c.1076_1079delinsCGCG NP_000772.2:p.Ala359=
NM_001099773.1:c.602_605delinsCGCG NP_001093243.1:p.Ala201=
NM_000781.3:c.1076_1079delinsCGCG MANE Select NP_000772.2:p.Ala359=
NM_001099773.2:c.602_605delinsCGCG NP_001093243.1:p.Ala201=