Canonical Allele Identifier: CA2575206557
Gene: CYP27B1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764269del , CM000674.2:g.57764269del GRCh38
NC_000012.11:g.58158052del , CM000674.1:g.58158052del GRCh37
NC_000012.10:g.56444319del NCBI36
NG_007076.1:g.7926del

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1218-92del ENSP00000518840.1:n.1218-92del
ENST00000713545.1:c.*142-92del ENSP00000518841.1:n.*142-92del
ENST00000228606.9:c.1137-92del MANE Select ENSP00000228606.4:n.1137-92del
ENST00000228606.8:c.1137-92del ENSP00000228606.4:n.1137-92del
ENST00000546567.5:c.432-92del ENSP00000449472.1:n.432-92del
ENST00000547344.5:n.1276-92del
NM_000785.3:c.1137-92del NP_000776.1:n.1137-92del
NM_000785.4:c.1137-92del MANE Select NP_000776.1:n.1137-92del
Search 100 bp 5'
Search 100 bp 3'