Canonical Allele Identifier: CA2619518165

Gene: CYP27B1

Linked Data

• gnomAD v4: 12-57765703-C-CTGTCGCAGCAGCTCCTCGA

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765703_57765704insTGTCGCAGCAGCTCCTCGA , CM000674.2:g.57765703_57765704insTGTCGCAGCAGCTCCTCGA	GRCh38
NC_000012.11:g.58159486_58159487insTGTCGCAGCAGCTCCTCGA , CM000674.1:g.58159486_58159487insTGTCGCAGCAGCTCCTCGA	GRCh37
NC_000012.10:g.56445753_56445754insTGTCGCAGCAGCTCCTCGA	NCBI36
NG_007076.1:g.6490_6491insTCGAGGAGCTGCTGCGACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.299-205_299-204insTCGAGGAGCTGCTGCGACA
ENST00000713544.1:c.387-124_387-123insTCGAGGAGCTGCTGCGACA	ENSP00000518840.1:n.387-124_387-123insTCGAGGAGCTGCTGCGACA
ENST00000713545.1:c.387-147_387-146insTCGAGGAGCTGCTGCGACA	ENSP00000518841.1:n.387-147_387-146insTCGAGGAGCTGCTGCGACA
ENST00000228606.9:c.387-205_387-204insTCGAGGAGCTGCTGCGACA MANE Select	ENSP00000228606.4:n.387-205_387-204insTCGAGGAGCTGCTGCGACA
ENST00000228606.8:c.387-205_387-204insTCGAGGAGCTGCTGCGACA	ENSP00000228606.4:n.387-205_387-204insTCGAGGAGCTGCTGCGACA
ENST00000546496.1:n.215-205_215-204insTCGAGGAGCTGCTGCGACA
ENST00000546609.1:c.299-205_299-204insTCGAGGAGCTGCTGCGACA
ENST00000547344.5:n.441-205_441-204insTCGAGGAGCTGCTGCGACA
ENST00000552186.1:n.506-205_506-204insTCGAGGAGCTGCTGCGACA
NM_000785.3:c.387-205_387-204insTCGAGGAGCTGCTGCGACA	NP_000776.1:n.387-205_387-204insTCGAGGAGCTGCTGCGACA
NM_000785.4:c.387-205_387-204insTCGAGGAGCTGCTGCGACA MANE Select	NP_000776.1:n.387-205_387-204insTCGAGGAGCTGCTGCGACA