Canonical Allele Identifier: CA2619516892

Gene: CYP27B1

Linked Data

• gnomAD v4: 12-57765189-GCCGAGCAGAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765193_57765202del , CM000674.2:g.57765193_57765202del	GRCh38
NC_000012.11:g.58158976_58158985del , CM000674.1:g.58158976_58158985del	GRCh37
NC_000012.10:g.56445243_56445252del	NCBI36
NG_007076.1:g.6995_7004del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.514_523del
ENST00000713544.1:c.683_692del	ENSP00000518840.1:p.Val228AlafsTer?
ENST00000713545.1:c.660_669del	ENSP00000518841.1:p.Ala222ArgfsTer?
ENST00000228606.9:c.602_611del MANE Select	ENSP00000228606.4:p.Val201AlafsTer?
ENST00000228606.8:c.602_611del	ENSP00000228606.4:p.Val201AlafsTer?
ENST00000546567.5:c.-104_-95del	ENSP00000449472.1:n.-104_-95del
ENST00000546609.1:c.514_523del
ENST00000547344.5:n.741_750del
ENST00000547451.1:n.402_411del
NM_000785.3:c.602_611del	NP_000776.1:p.Val201AlafsTer?
NM_000785.4:c.602_611del MANE Select	NP_000776.1:p.Val201AlafsTer?