Canonical Allele Identifier: CA2619514735
Gene: CYP27B1 HGNC NCBI

Linked Data

gnomAD v4: 12-57763650-TC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57763651del , CM000674.2:g.57763651del GRCh38
NC_000012.11:g.58157434del , CM000674.1:g.58157434del GRCh37
NC_000012.10:g.56443701del NCBI36
NG_007076.1:g.8543del

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1454del ENSP00000518840.1:p.Arg485AsnfsTer16
ENST00000713545.1:c.*378del ENSP00000518841.1:n.*378del
ENST00000228606.9:c.1373del MANE Select ENSP00000228606.4:p.Arg458AsnfsTer16
ENST00000228606.8:c.1373del ENSP00000228606.4:p.Arg458AsnfsTer16
ENST00000547344.5:n.1512del
NM_000785.3:c.1373del NP_000776.1:p.Arg458AsnfsTer16
NM_000785.4:c.1373del MANE Select NP_000776.1:p.Arg458AsnfsTer16
Search 100 bp 5'
Search 100 bp 3'