Canonical Allele Identifier: CA2619514829
Gene: CYP27B1 HGNC NCBI

Linked Data

gnomAD v4: 12-57763708-GTGGGA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57763709_57763713del , CM000674.2:g.57763709_57763713del GRCh38
NC_000012.11:g.58157492_58157496del , CM000674.1:g.58157492_58157496del GRCh37
NC_000012.10:g.56443759_56443763del NCBI36
NG_007076.1:g.8481_8485del

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1392_1396del ENSP00000518840.1:p.Thr466ProfsTer24
ENST00000713545.1:c.*316_*320del ENSP00000518841.1:n.*316_*320del
ENST00000228606.9:c.1311_1315del MANE Select ENSP00000228606.4:p.Thr439ProfsTer24
ENST00000228606.8:c.1311_1315del ENSP00000228606.4:p.Thr439ProfsTer24
ENST00000547344.5:n.1450_1454del
NM_000785.3:c.1311_1315del NP_000776.1:p.Thr439ProfsTer24
NM_000785.4:c.1311_1315del MANE Select NP_000776.1:p.Thr439ProfsTer24
Search 100 bp 5'
Search 100 bp 3'