Canonical Allele Identifier: CA1328929540
Gene: CYP27A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814064_218814065delinsAC , CM000664.2:g.218814064_218814065delinsAC GRCh38
NC_000002.11:g.219678787_219678788delinsAC , CM000664.1:g.219678787_219678788delinsAC GRCh37
NC_000002.10:g.219387031_219387032delinsAC NCBI36
NG_007959.1:g.37316_37317delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.1061_1062delinsAC MANE Select ENSP00000258415.4:p.Asp354=
ENST00000258415.8:c.1061_1062delinsAC ENSP00000258415.4:p.Asp354=
ENST00000445971.1:c.*522_*523delinsAC ENSP00000404945.1:n.*522_*523delinsAC
ENST00000466602.1:n.1183_1184delinsAC
ENST00000494263.5:n.1495_1496delinsAC
NM_000784.3:c.1061_1062delinsAC NP_000775.1:p.Asp354=
XM_017003488.2:c.641_642delinsAC XP_016858977.1:p.Asp214=
NM_000784.4:c.1061_1062delinsAC MANE Select NP_000775.1:p.Asp354=
Search 100 bp 5'
Search 100 bp 3'