Canonical Allele Identifier: CA919097508

Gene: CYP27B1

Linked Data

• dbSNP Id: rs1280634797
• gnomAD v3: 12-57764649-C-CTTATGGTCTACGTGGCCATTA
• gnomAD v4: 12-57764649-C-CTTATGGTCTACGTGGCCATTA

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57764650_57764651insTATGGTCTACGTGGCCATTAT , CM000674.2:g.57764650_57764651insTATGGTCTACGTGGCCATTAT	GRCh38
NC_000012.11:g.58158433_58158434insTATGGTCTACGTGGCCATTAT , CM000674.1:g.58158433_58158434insTATGGTCTACGTGGCCATTAT	GRCh37
NC_000012.10:g.56444700_56444701insTATGGTCTACGTGGCCATTAT	NCBI36
NG_007076.1:g.7544_7545insTAATGGCCACGTAGACCATAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1045-100_1045-99insTAATGGCCACGTAGACCATAA	ENSP00000518840.1:n.1045-100_1045-99insTAATGGCCACGTAGACCATAA
ENST00000713545.1:c.1022-100_1022-99insTAATGGCCACGTAGACCATAA	ENSP00000518841.1:n.1022-100_1022-99insTAATGGCCACGTAGACCATAA
ENST00000228606.9:c.964-100_964-99insTAATGGCCACGTAGACCATAA MANE Select	ENSP00000228606.4:n.964-100_964-99insTAATGGCCACGTAGACCATAA
ENST00000228606.8:c.964-100_964-99insTAATGGCCACGTAGACCATAA	ENSP00000228606.4:n.964-100_964-99insTAATGGCCACGTAGACCATAA
ENST00000546567.5:c.259-100_259-99insTAATGGCCACGTAGACCATAA	ENSP00000449472.1:n.259-100_259-99insTAATGGCCACGTAGACCATAA
ENST00000547344.5:n.1103-100_1103-99insTAATGGCCACGTAGACCATAA
ENST00000547451.1:n.867_868insTAATGGCCACGTAGACCATAA
NM_000785.3:c.964-100_964-99insTAATGGCCACGTAGACCATAA	NP_000776.1:n.964-100_964-99insTAATGGCCACGTAGACCATAA
NM_000785.4:c.964-100_964-99insTAATGGCCACGTAGACCATAA MANE Select	NP_000776.1:n.964-100_964-99insTAATGGCCACGTAGACCATAA