Canonical Allele Identifier: CA2575206594
Gene: CYP27B1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57765180del , CM000674.2:g.57765180del GRCh38
NC_000012.11:g.58158963del , CM000674.1:g.58158963del GRCh37
NC_000012.10:g.56445230del NCBI36
NG_007076.1:g.7016del

Transcript Alleles

HGVS Amino-acid change
ENST00000546609.2:n.535del
ENST00000713544.1:c.704del ENSP00000518840.1:p.Gly235AlafsTer27
ENST00000713545.1:c.681del ENSP00000518841.1:p.Leu228CysfsTer?
ENST00000228606.9:c.623del MANE Select ENSP00000228606.4:p.Gly208AlafsTer27
ENST00000228606.8:c.623del ENSP00000228606.4:p.Gly208AlafsTer27
ENST00000546567.5:c.-83del ENSP00000449472.1:n.-83del
ENST00000546609.1:c.535del
ENST00000547344.5:n.762del
ENST00000547451.1:n.423del
NM_000785.3:c.623del NP_000776.1:p.Gly208AlafsTer27
NM_000785.4:c.623del MANE Select NP_000776.1:p.Gly208AlafsTer27
Search 100 bp 5'
Search 100 bp 3'