Canonical Allele Identifier: CA2619515425

Gene: CYP27B1

Linked Data

• gnomAD v4: 12-57764160-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57764161del , CM000674.2:g.57764161del	GRCh38
NC_000012.11:g.58157944del , CM000674.1:g.58157944del	GRCh37
NC_000012.10:g.56444211del	NCBI36
NG_007076.1:g.8033del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1233del	ENSP00000518840.1:p.Pro412LeufsTer?
ENST00000713545.1:c.*157del	ENSP00000518841.1:n.*157del
ENST00000228606.9:c.1152del MANE Select	ENSP00000228606.4:p.Pro385LeufsTer?
ENST00000228606.8:c.1152del	ENSP00000228606.4:p.Pro385LeufsTer?
ENST00000546567.5:c.447del	ENSP00000449472.1:p.Pro150LeufsTer?
ENST00000547344.5:n.1291del
NM_000785.3:c.1152del	NP_000776.1:p.Pro385LeufsTer?
NM_000785.4:c.1152del MANE Select	NP_000776.1:p.Pro385LeufsTer?