Canonical Allele Identifier: CA2796149626
Gene: CYP27B1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764406del , CM000674.2:g.57764406del GRCh38
NC_000012.11:g.58158189del , CM000674.1:g.58158189del GRCh37
NC_000012.10:g.56444456del NCBI36
NG_007076.1:g.7788del

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1189del ENSP00000518840.1:p.Leu397Ter
ENST00000713545.1:c.*113del ENSP00000518841.1:n.*113del
ENST00000228606.9:c.1108del MANE Select ENSP00000228606.4:p.Leu370Ter
ENST00000228606.8:c.1108del ENSP00000228606.4:p.Leu370Ter
ENST00000546567.5:c.403del ENSP00000449472.1:p.Leu135Ter
ENST00000547344.5:n.1247del
NM_000785.3:c.1108del NP_000776.1:p.Leu370Ter
NM_000785.4:c.1108del MANE Select NP_000776.1:p.Leu370Ter
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