Canonical Allele Identifier: CA2619518009

Gene: CYP27B1

Linked Data

• gnomAD v4: 12-57765668-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765671del , CM000674.2:g.57765671del	GRCh38
NC_000012.11:g.58159454del , CM000674.1:g.58159454del	GRCh37
NC_000012.10:g.56445721del	NCBI36
NG_007076.1:g.6525del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.299-170del
ENST00000713544.1:c.387-89del	ENSP00000518840.1:n.387-89del
ENST00000713545.1:c.387-112del	ENSP00000518841.1:n.387-112del
ENST00000228606.9:c.387-170del MANE Select	ENSP00000228606.4:n.387-170del
ENST00000228606.8:c.387-170del	ENSP00000228606.4:n.387-170del
ENST00000546496.1:n.215-170del
ENST00000546567.5:c.-489del	ENSP00000449472.1:n.-489del
ENST00000546609.1:c.299-170del
ENST00000547344.5:n.441-170del
ENST00000547451.1:n.17del
ENST00000552186.1:n.506-170del
NM_000785.3:c.387-170del	NP_000776.1:n.387-170del
NM_000785.4:c.387-170del MANE Select	NP_000776.1:n.387-170del