Canonical Allele Identifier: CA2619518396

Gene: CYP27B1

Linked Data

• gnomAD v4: 12-57765769-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765770del , CM000674.2:g.57765770del	GRCh38
NC_000012.11:g.58159553del , CM000674.1:g.58159553del	GRCh37
NC_000012.10:g.56445820del	NCBI36
NG_007076.1:g.6424del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.298+237del
ENST00000713544.1:c.387-190del	ENSP00000518840.1:n.387-190del
ENST00000713545.1:c.387-213del	ENSP00000518841.1:n.387-213del
ENST00000228606.9:c.386+237del MANE Select	ENSP00000228606.4:n.386+237del
ENST00000228606.8:c.386+237del	ENSP00000228606.4:n.386+237del
ENST00000546496.1:n.214+237del
ENST00000546609.1:c.298+237del
ENST00000547344.5:n.440+237del
ENST00000552186.1:n.505+237del
NM_000785.3:c.386+237del	NP_000776.1:n.386+237del
NM_000785.4:c.386+237del MANE Select	NP_000776.1:n.386+237del