Canonical Allele Identifier: CA2619514762
Gene: CYP27B1 HGNC NCBI

Linked Data

gnomAD v4: 12-57763666-C-CGCTT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57763669_57763672dup , CM000674.2:g.57763669_57763672dup GRCh38
NC_000012.11:g.58157452_58157455dup , CM000674.1:g.58157452_58157455dup GRCh37
NC_000012.10:g.56443719_56443722dup NCBI36
NG_007076.1:g.8524_8527dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1435_1438dup ENSP00000518840.1:p.Arg480GlnfsTer13
ENST00000713545.1:c.*359_*362dup ENSP00000518841.1:n.*359_*362dup
ENST00000228606.9:c.1354_1357dup MANE Select ENSP00000228606.4:p.Arg453GlnfsTer13
ENST00000228606.8:c.1354_1357dup ENSP00000228606.4:p.Arg453GlnfsTer13
ENST00000547344.5:n.1493_1496dup
NM_000785.3:c.1354_1357dup NP_000776.1:p.Arg453GlnfsTer13
NM_000785.4:c.1354_1357dup MANE Select NP_000776.1:p.Arg453GlnfsTer13
Search 100 bp 5'
Search 100 bp 3'