Canonical Allele Identifier: CA2619516184

Gene: CYP27B1

Linked Data

• gnomAD v4: 12-57764641-AAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57764642_57764643del , CM000674.2:g.57764642_57764643del	GRCh38
NC_000012.11:g.58158425_58158426del , CM000674.1:g.58158425_58158426del	GRCh37
NC_000012.10:g.56444692_56444693del	NCBI36
NG_007076.1:g.7551_7552del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1045-93_1045-92del	ENSP00000518840.1:n.1045-93_1045-92del
ENST00000713545.1:c.1022-93_1022-92del	ENSP00000518841.1:n.1022-93_1022-92del
ENST00000228606.9:c.964-93_964-92del MANE Select	ENSP00000228606.4:n.964-93_964-92del
ENST00000228606.8:c.964-93_964-92del	ENSP00000228606.4:n.964-93_964-92del
ENST00000546567.5:c.259-93_259-92del	ENSP00000449472.1:n.259-93_259-92del
ENST00000547344.5:n.1103-93_1103-92del
ENST00000547451.1:n.874_875del
NM_000785.3:c.964-93_964-92del	NP_000776.1:n.964-93_964-92del
NM_000785.4:c.964-93_964-92del MANE Select	NP_000776.1:n.964-93_964-92del