Canonical Allele Identifier: CA2739269573
Gene: CYP11A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2864775
ClinVar RCV Id: RCV003697458
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000268053.11:c.1126del MANE Select ENSP00000268053.6:p.Leu376SerfsTer10
ENST00000268053.10:c.1126del ENSP00000268053.6:p.Leu376SerfsTer10
ENST00000358632.8:c.652del ENSP00000351455.4:p.Leu218SerfsTer10
ENST00000435365.5:c.1126del ENSP00000391081.1:p.Leu376SerfsTer10
ENST00000566674.5:c.652del ENSP00000456941.1:p.Leu218SerfsTer10
NM_000781.2:c.1126del NP_000772.2:p.Leu376SerfsTer10
NM_001099773.1:c.652del NP_001093243.1:p.Leu218SerfsTer10
NM_000781.3:c.1126del MANE Select NP_000772.2:p.Leu376SerfsTer10
NM_001099773.2:c.652del NP_001093243.1:p.Leu218SerfsTer10
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