Canonical Allele Identifier: CA2619517009

Gene: CYP27B1

Linked Data

• gnomAD v4: 12-57765227-C-CGAT

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765228_57765229insATG , CM000674.2:g.57765228_57765229insATG	GRCh38
NC_000012.11:g.58159011_58159012insATG , CM000674.1:g.58159011_58159012insATG	GRCh37
NC_000012.10:g.56445278_56445279insATG	NCBI36
NG_007076.1:g.6966_6967insATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.502-17_502-16insATC
ENST00000713544.1:c.671-17_671-16insATC	ENSP00000518840.1:n.671-17_671-16insATC
ENST00000713545.1:c.648-17_648-16insATC	ENSP00000518841.1:n.648-17_648-16insATC
ENST00000228606.9:c.590-17_590-16insATC MANE Select	ENSP00000228606.4:n.590-17_590-16insATC
ENST00000228606.8:c.590-17_590-16insATC	ENSP00000228606.4:n.590-17_590-16insATC
ENST00000546567.5:c.-116-17_-116-16insATC	ENSP00000449472.1:n.-116-17_-116-16insATC
ENST00000546609.1:c.502-17_502-16insATC
ENST00000547344.5:n.712_713insATC
ENST00000547451.1:n.390-17_390-16insATC
NM_000785.3:c.590-17_590-16insATC	NP_000776.1:n.590-17_590-16insATC
NM_000785.4:c.590-17_590-16insATC MANE Select	NP_000776.1:n.590-17_590-16insATC