Canonical Allele Identifier: CA2619514981

Gene: CYP27B1

Linked Data

• gnomAD v4: 12-57763859-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57763860del , CM000674.2:g.57763860del	GRCh38
NC_000012.11:g.58157643del , CM000674.1:g.58157643del	GRCh37
NC_000012.10:g.56443910del	NCBI36
NG_007076.1:g.8334del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1297-52del	ENSP00000518840.1:n.1297-52del
ENST00000713545.1:c.*221-52del	ENSP00000518841.1:n.*221-52del
ENST00000228606.9:c.1216-52del MANE Select	ENSP00000228606.4:n.1216-52del
ENST00000228606.8:c.1216-52del	ENSP00000228606.4:n.1216-52del
ENST00000547344.5:n.1355-52del
NM_000785.3:c.1216-52del	NP_000776.1:n.1216-52del
NM_000785.4:c.1216-52del MANE Select	NP_000776.1:n.1216-52del