Canonical Allele Identifier: CA645584541

Gene: CYP27B1

Linked Data

• COSMIC: COSM5515491

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765115_57765131del , CM000674.2:g.57765115_57765131del	GRCh38
NC_000012.11:g.58158898_58158914del , CM000674.1:g.58158898_58158914del	GRCh37
NC_000012.10:g.56445165_56445181del	NCBI36
NG_007076.1:g.7063_7079del

Transcript Alleles

HGVS	Amino-acid change
ENST00000546609.2:n.582_598del
ENST00000713544.1:c.751_767del	ENSP00000518840.1:p.Ala251CysfsTer?
ENST00000713545.1:c.728_744del	ENSP00000518841.1:p.Arg243LeufsTer6
ENST00000228606.9:c.670_686del MANE Select	ENSP00000228606.4:p.Ala224CysfsTer?
ENST00000228606.8:c.670_686del	ENSP00000228606.4:p.Ala224CysfsTer?
ENST00000546567.5:c.-36_-20del	ENSP00000449472.1:n.-36_-20del
ENST00000546609.1:c.582_598del
ENST00000547344.5:n.809_825del
ENST00000547451.1:n.470_486del
NM_000785.3:c.670_686del	NP_000776.1:p.Ala224CysfsTer?
NM_000785.4:c.670_686del MANE Select	NP_000776.1:p.Ala224CysfsTer?