Canonical Allele Identifier: CA2038990553

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765993_57765995delinsCAG , CM000674.2:g.57765993_57765995delinsCAG	GRCh38
NC_000012.11:g.58159776_58159778delinsCAG , CM000674.1:g.58159776_58159778delinsCAG	GRCh37
NC_000012.10:g.56446043_56446045delinsCAG	NCBI36
NG_007076.1:g.6199_6201delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.298+12_298+14delinsCTG
ENST00000713544.1:c.386+12_386+14delinsCTG	ENSP00000518840.1:n.386+12_386+14delinsCTG
ENST00000713545.1:c.386+12_386+14delinsCTG	ENSP00000518841.1:n.386+12_386+14delinsCTG
ENST00000228606.9:c.386+12_386+14delinsCTG MANE Select	ENSP00000228606.4:n.386+12_386+14delinsCTG
ENST00000228606.8:c.386+12_386+14delinsCTG	ENSP00000228606.4:n.386+12_386+14delinsCTG
ENST00000546496.1:n.214+12_214+14delinsCTG
ENST00000546609.1:c.298+12_298+14delinsCTG
ENST00000547344.5:n.440+12_440+14delinsCTG
ENST00000552186.1:n.505+12_505+14delinsCTG
NM_000785.3:c.386+12_386+14delinsCTG	NP_000776.1:n.386+12_386+14delinsCTG
NM_000785.4:c.386+12_386+14delinsCTG MANE Select	NP_000776.1:n.386+12_386+14delinsCTG