Canonical Allele Identifier: CA2577246469
Gene: CYP27A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218813980del , CM000664.2:g.218813980del GRCh38
NC_000002.11:g.219678703del , CM000664.1:g.219678703del GRCh37
NC_000002.10:g.219386947del NCBI36
NG_007959.1:g.37232del

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.1018-41del MANE Select ENSP00000258415.4:n.1018-41del
ENST00000258415.8:c.1018-41del ENSP00000258415.4:n.1018-41del
ENST00000445971.1:c.*479-41del ENSP00000404945.1:n.*479-41del
ENST00000466602.1:n.1140-41del
ENST00000494263.5:n.1452-41del
NM_000784.3:c.1018-41del NP_000775.1:n.1018-41del
XM_017003488.2:c.598-41del XP_016858977.1:n.598-41del
NM_000784.4:c.1018-41del MANE Select NP_000775.1:n.1018-41del