Canonical Allele Identifier: CA2553095401
Gene: CYP27B1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57766202_57766203insA , CM000674.2:g.57766202_57766203insA GRCh38
NC_000012.11:g.58159985_58159986insA , CM000674.1:g.58159985_58159986insA GRCh37
NC_000012.10:g.56446252_56446253insA NCBI36
NG_007076.1:g.5991_5992insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000546609.2:n.108-6_108-5insT
ENST00000713544.1:c.196-6_196-5insT ENSP00000518840.1:n.196-6_196-5insT
ENST00000713545.1:c.196-6_196-5insT ENSP00000518841.1:n.196-6_196-5insT
ENST00000228606.9:c.196-6_196-5insT MANE Select ENSP00000228606.4:n.196-6_196-5insT
ENST00000228606.8:c.196-6_196-5insT ENSP00000228606.4:n.196-6_196-5insT
ENST00000546496.1:n.24-6_24-5insT
ENST00000546609.1:c.108-6_108-5insT
ENST00000547344.5:n.250-6_250-5insT
ENST00000552186.1:n.309_310insT
NM_000785.3:c.196-6_196-5insT NP_000776.1:n.196-6_196-5insT
NM_000785.4:c.196-6_196-5insT MANE Select NP_000776.1:n.196-6_196-5insT
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