Canonical Allele Identifier: CA272751429
Gene: CYP11A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74367192_74367196del , CM000677.2:g.74367192_74367196del GRCh38
NC_000015.9:g.74659533_74659537del , CM000677.1:g.74659533_74659537del GRCh37
NC_000015.8:g.72446586_72446590del NCBI36
NG_007973.1:g.5558_5562del

Transcript Alleles

HGVS Amino-acid Change
ENST00000268053.11:c.269+134_269+138del MANE Select ENSP00000268053.6:n.269+134_269+138del
ENST00000268053.10:c.269+134_269+138del ENSP00000268053.6:n.269+134_269+138del
ENST00000416978.1:c.269+134_269+138del ENSP00000388018.1:n.269+134_269+138del
ENST00000435365.5:c.269+134_269+138del ENSP00000391081.1:n.269+134_269+138del
ENST00000467407.1:n.330+134_330+138del
NM_000781.2:c.269+134_269+138del NP_000772.2:n.269+134_269+138del
NM_000781.3:c.269+134_269+138del MANE Select NP_000772.2:n.269+134_269+138del