Canonical Allele Identifier: CA2187642645
Gene: CYP11A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74345468_74345469delinsCA , CM000677.2:g.74345468_74345469delinsCA GRCh38
NC_000015.9:g.74637809_74637810delinsCA , CM000677.1:g.74637809_74637810delinsCA GRCh37
NC_000015.8:g.72424862_72424863delinsCA NCBI36
NG_007973.1:g.27273_27274delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000268053.11:c.426-226_426-225delinsTG MANE Select ENSP00000268053.6:n.426-226_426-225delinsTG
ENST00000268053.10:c.426-226_426-225delinsTG ENSP00000268053.6:n.426-226_426-225delinsTG
ENST00000358632.8:c.-49-226_-49-225delinsTG ENSP00000351455.4:n.-49-226_-49-225delinsTG
ENST00000416978.1:c.426-179_426-178delinsTG ENSP00000388018.1:n.426-179_426-178delinsTG
ENST00000435365.5:c.426-226_426-225delinsTG ENSP00000391081.1:n.426-226_426-225delinsTG
ENST00000450547.1:c.-49-226_-49-225delinsTG ENSP00000402064.1:n.-49-226_-49-225delinsTG
ENST00000466978.1:n.820-226_820-225delinsTG
ENST00000566674.5:c.-49-226_-49-225delinsTG ENSP00000456941.1:n.-49-226_-49-225delinsTG
ENST00000569662.1:c.-49-226_-49-225delinsTG ENSP00000456598.1:n.-49-226_-49-225delinsTG
NM_000781.2:c.426-226_426-225delinsTG NP_000772.2:n.426-226_426-225delinsTG
NM_001099773.1:c.-49-226_-49-225delinsTG NP_001093243.1:n.-49-226_-49-225delinsTG
NM_000781.3:c.426-226_426-225delinsTG MANE Select NP_000772.2:n.426-226_426-225delinsTG
NM_001099773.2:c.-49-226_-49-225delinsTG NP_001093243.1:n.-49-226_-49-225delinsTG