Canonical Allele Identifier: CA2695216951
Gene: CYP27B1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764481_57764496del , CM000674.2:g.57764481_57764496del GRCh38
NC_000012.11:g.58158264_58158279del , CM000674.1:g.58158264_58158279del GRCh37
NC_000012.10:g.56444531_56444546del NCBI36
NG_007076.1:g.7702_7717del

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1103_1118del ENSP00000518840.1:p.Thr368ArgfsTer6
ENST00000713545.1:c.*27_*42del ENSP00000518841.1:n.*27_*42del
ENST00000228606.9:c.1022_1037del MANE Select ENSP00000228606.4:p.Thr341ArgfsTer6
ENST00000228606.8:c.1022_1037del ENSP00000228606.4:p.Thr341ArgfsTer6
ENST00000546567.5:c.317_332del ENSP00000449472.1:p.Thr106ArgfsTer6
ENST00000547344.5:n.1161_1176del
NM_000785.3:c.1022_1037del NP_000776.1:p.Thr341ArgfsTer6
NM_000785.4:c.1022_1037del MANE Select NP_000776.1:p.Thr341ArgfsTer6
Search 100 bp 5'
Search 100 bp 3'