Canonical Allele Identifier: CA2619516214

Gene: CYP27B1

Linked Data

• gnomAD v4: 12-57764659-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57764661del , CM000674.2:g.57764661del	GRCh38
NC_000012.11:g.58158444del , CM000674.1:g.58158444del	GRCh37
NC_000012.10:g.56444711del	NCBI36
NG_007076.1:g.7534del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1044+94del	ENSP00000518840.1:n.1044+94del
ENST00000713545.1:c.1021+94del	ENSP00000518841.1:n.1021+94del
ENST00000228606.9:c.963+94del MANE Select	ENSP00000228606.4:n.963+94del
ENST00000228606.8:c.963+94del	ENSP00000228606.4:n.963+94del
ENST00000546567.5:c.258+94del	ENSP00000449472.1:n.258+94del
ENST00000547344.5:n.1102+94del
ENST00000547451.1:n.857del
NM_000785.3:c.963+94del	NP_000776.1:n.963+94del
NM_000785.4:c.963+94del MANE Select	NP_000776.1:n.963+94del