Canonical Allele Identifier: CA2619520959
Gene: CYP27B1 HGNC NCBI

Linked Data

gnomAD v4: 12-57766465-CT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57766466del , CM000674.2:g.57766466del GRCh38
NC_000012.11:g.58160249del , CM000674.1:g.58160249del GRCh37
NC_000012.10:g.56446516del NCBI36
NG_007076.1:g.5728del

Transcript Alleles

HGVS Amino-acid Change
ENST00000546609.2:n.108-269del
ENST00000713544.1:c.196-269del ENSP00000518840.1:n.196-269del
ENST00000713545.1:c.196-269del ENSP00000518841.1:n.196-269del
ENST00000228606.9:c.196-269del MANE Select ENSP00000228606.4:n.196-269del
ENST00000228606.8:c.196-269del ENSP00000228606.4:n.196-269del
ENST00000546609.1:c.108-269del
ENST00000547344.5:n.250-269del
ENST00000552186.1:n.46del
NM_000785.3:c.196-269del NP_000776.1:n.196-269del
NM_000785.4:c.196-269del MANE Select NP_000776.1:n.196-269del
Search 100 bp 5'
Search 100 bp 3'