Canonical Allele Identifier: CA2586971566
Gene: CYP27A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814186_218814187insT , CM000664.2:g.218814186_218814187insT GRCh38
NC_000002.11:g.219678909_219678910insT , CM000664.1:g.219678909_219678910insT GRCh37
NC_000002.10:g.219387153_219387154insT NCBI36
NG_007959.1:g.37438_37439insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.1183_1184insT MANE Select ENSP00000258415.4:p.Arg395LeufsTer18
ENST00000258415.8:c.1183_1184insT ENSP00000258415.4:p.Arg395LeufsTer18
ENST00000494263.5:n.1617_1618insT
NM_000784.3:c.1183_1184insT NP_000775.1:p.Arg395LeufsTer18
XM_017003488.2:c.763_764insT XP_016858977.1:p.Arg255LeufsTer18
NM_000784.4:c.1183_1184insT MANE Select NP_000775.1:p.Arg395LeufsTer18
Search 100 bp 5'
Search 100 bp 3'