Canonical Allele Identifier: CA2619514871

Gene: CYP27B1

Linked Data

• gnomAD v4: 12-57763746-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57763749del , CM000674.2:g.57763749del	GRCh38
NC_000012.11:g.58157532del , CM000674.1:g.58157532del	GRCh37
NC_000012.10:g.56443799del	NCBI36
NG_007076.1:g.8447del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1358del	ENSP00000518840.1:p.Asn453IlefsTer?
ENST00000713545.1:c.*282del	ENSP00000518841.1:n.*282del
ENST00000228606.9:c.1277del MANE Select	ENSP00000228606.4:p.Asn426IlefsTer?
ENST00000228606.8:c.1277del	ENSP00000228606.4:p.Asn426IlefsTer?
ENST00000547344.5:n.1416del
NM_000785.3:c.1277del	NP_000776.1:p.Asn426IlefsTer?
NM_000785.4:c.1277del MANE Select	NP_000776.1:p.Asn426IlefsTer?