Canonical Allele Identifier: CA2619518069

Gene: CYP27B1

Linked Data

• gnomAD v4: 12-57765684-C-CG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765684_57765685insG , CM000674.2:g.57765684_57765685insG	GRCh38
NC_000012.11:g.58159467_58159468insG , CM000674.1:g.58159467_58159468insG	GRCh37
NC_000012.10:g.56445734_56445735insG	NCBI36
NG_007076.1:g.6509_6510insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.299-186_299-185insC
ENST00000713544.1:c.387-105_387-104insC	ENSP00000518840.1:n.387-105_387-104insC
ENST00000713545.1:c.387-128_387-127insC	ENSP00000518841.1:n.387-128_387-127insC
ENST00000228606.9:c.387-186_387-185insC MANE Select	ENSP00000228606.4:n.387-186_387-185insC
ENST00000228606.8:c.387-186_387-185insC	ENSP00000228606.4:n.387-186_387-185insC
ENST00000546496.1:n.215-186_215-185insC
ENST00000546567.5:c.-505_-504insC	ENSP00000449472.1:n.-505_-504insC
ENST00000546609.1:c.299-186_299-185insC
ENST00000547344.5:n.441-186_441-185insC
ENST00000547451.1:n.1_2insC
ENST00000552186.1:n.506-186_506-185insC
NM_000785.3:c.387-186_387-185insC	NP_000776.1:n.387-186_387-185insC
NM_000785.4:c.387-186_387-185insC MANE Select	NP_000776.1:n.387-186_387-185insC