Canonical Allele Identifier: CA2619515990
Gene: CYP27B1 HGNC NCBI

Linked Data

gnomAD v4: 12-57764485-GA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764486del , CM000674.2:g.57764486del GRCh38
NC_000012.11:g.58158269del , CM000674.1:g.58158269del GRCh37
NC_000012.10:g.56444536del NCBI36
NG_007076.1:g.7708del

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1109del ENSP00000518840.1:p.Leu370ProfsTer9
ENST00000713545.1:c.*33del ENSP00000518841.1:n.*33del
ENST00000228606.9:c.1028del MANE Select ENSP00000228606.4:p.Leu343ProfsTer9
ENST00000228606.8:c.1028del ENSP00000228606.4:p.Leu343ProfsTer9
ENST00000546567.5:c.323del ENSP00000449472.1:p.Leu108ProfsTer9
ENST00000547344.5:n.1167del
NM_000785.3:c.1028del NP_000776.1:p.Leu343ProfsTer9
NM_000785.4:c.1028del MANE Select NP_000776.1:p.Leu343ProfsTer9
Search 100 bp 5'
Search 100 bp 3'