Canonical Allele Identifier: CA2619520940
Gene: CYP27B1 HGNC NCBI

Linked Data

gnomAD v4: 12-57766452-CGAG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57766456_57766458del , CM000674.2:g.57766456_57766458del GRCh38
NC_000012.11:g.58160239_58160241del , CM000674.1:g.58160239_58160241del GRCh37
NC_000012.10:g.56446506_56446508del NCBI36
NG_007076.1:g.5739_5741del

Transcript Alleles

HGVS Amino-acid Change
ENST00000546609.2:n.108-258_108-256del
ENST00000713544.1:c.196-258_196-256del ENSP00000518840.1:n.196-258_196-256del
ENST00000713545.1:c.196-258_196-256del ENSP00000518841.1:n.196-258_196-256del
ENST00000228606.9:c.196-258_196-256del MANE Select ENSP00000228606.4:n.196-258_196-256del
ENST00000228606.8:c.196-258_196-256del ENSP00000228606.4:n.196-258_196-256del
ENST00000546609.1:c.108-258_108-256del
ENST00000547344.5:n.250-258_250-256del
ENST00000552186.1:n.57_59del
NM_000785.3:c.196-258_196-256del NP_000776.1:n.196-258_196-256del
NM_000785.4:c.196-258_196-256del MANE Select NP_000776.1:n.196-258_196-256del
Search 100 bp 5'
Search 100 bp 3'