Canonical Allele Identifier: CA1328928995
Gene: CYP27A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218812882_218812883delinsAC , CM000664.2:g.218812882_218812883delinsAC GRCh38
NC_000002.11:g.219677605_219677606delinsAC , CM000664.1:g.219677605_219677606delinsAC GRCh37
NC_000002.10:g.219385849_219385850delinsAC NCBI36
NG_007959.1:g.36134_36135delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.845-42_845-41delinsAC MANE Select ENSP00000258415.4:n.845-42_845-41delinsAC
ENST00000258415.8:c.845-42_845-41delinsAC ENSP00000258415.4:n.845-42_845-41delinsAC
ENST00000411688.1:c.563-42_563-41delinsAC ENSP00000392671.1:n.563-42_563-41delinsAC
ENST00000445971.1:c.*306-42_*306-41delinsAC ENSP00000404945.1:n.*306-42_*306-41delinsAC
ENST00000466602.1:n.925_926delinsAC
ENST00000494263.5:n.1279-42_1279-41delinsAC
NM_000784.3:c.845-42_845-41delinsAC NP_000775.1:n.845-42_845-41delinsAC
XM_017003488.2:c.425-42_425-41delinsAC XP_016858977.1:n.425-42_425-41delinsAC
NM_000784.4:c.845-42_845-41delinsAC MANE Select NP_000775.1:n.845-42_845-41delinsAC