Canonical Allele Identifier: CA2619518083

Gene: CYP27B1

Linked Data

• gnomAD v4: 12-57765688-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765689_57765690del , CM000674.2:g.57765689_57765690del	GRCh38
NC_000012.11:g.58159472_58159473del , CM000674.1:g.58159472_58159473del	GRCh37
NC_000012.10:g.56445739_56445740del	NCBI36
NG_007076.1:g.6504_6505del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.299-191_299-190del
ENST00000713544.1:c.387-110_387-109del	ENSP00000518840.1:n.387-110_387-109del
ENST00000713545.1:c.387-133_387-132del	ENSP00000518841.1:n.387-133_387-132del
ENST00000228606.9:c.387-191_387-190del MANE Select	ENSP00000228606.4:n.387-191_387-190del
ENST00000228606.8:c.387-191_387-190del	ENSP00000228606.4:n.387-191_387-190del
ENST00000546496.1:n.215-191_215-190del
ENST00000546609.1:c.299-191_299-190del
ENST00000547344.5:n.441-191_441-190del
ENST00000552186.1:n.506-191_506-190del
NM_000785.3:c.387-191_387-190del	NP_000776.1:n.387-191_387-190del
NM_000785.4:c.387-191_387-190del MANE Select	NP_000776.1:n.387-191_387-190del