Canonical Allele Identifier: CA2796149732
Gene: CYP27B1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57766048_57766049insGCA , CM000674.2:g.57766048_57766049insGCA GRCh38
NC_000012.11:g.58159831_58159832insGCA , CM000674.1:g.58159831_58159832insGCA GRCh37
NC_000012.10:g.56446098_56446099insGCA NCBI36
NG_007076.1:g.6145_6146insTGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000546609.2:n.256_257insTGC
ENST00000713544.1:c.344_345insTGC ENSP00000518840.1:p.Glu115delinsAspAla
ENST00000713545.1:c.344_345insTGC ENSP00000518841.1:p.Glu115delinsAspAla
ENST00000228606.9:c.344_345insTGC MANE Select ENSP00000228606.4:p.Glu115delinsAspAla
ENST00000228606.8:c.344_345insTGC ENSP00000228606.4:p.Glu115delinsAspAla
ENST00000546496.1:n.172_173insTGC
ENST00000546609.1:c.256_257insTGC
ENST00000547344.5:n.398_399insTGC
ENST00000552186.1:n.463_464insTGC
NM_000785.3:c.344_345insTGC NP_000776.1:p.Glu115delinsAspAla
NM_000785.4:c.344_345insTGC MANE Select NP_000776.1:p.Glu115delinsAspAla
Search 100 bp 5'
Search 100 bp 3'