Canonical Allele Identifier: CA2038988623
Gene: CYP27B1 HGNC NCBI

Linked Data

dbSNP Id: rs1955347536
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57765065_57765076del , CM000674.2:g.57765065_57765076del GRCh38
NC_000012.11:g.58158848_58158859del , CM000674.1:g.58158848_58158859del GRCh37
NC_000012.10:g.56445115_56445126del NCBI36
NG_007076.1:g.7121_7132del

Transcript Alleles

HGVS Amino-acid change
ENST00000546609.2:n.640_651del
ENST00000713544.1:c.809_820del ENSP00000518840.1:p.Arg270_Val273del
ENST00000713545.1:c.786_797del ENSP00000518841.1:p.Pro263_Ala266del
ENST00000228606.9:c.728_739del MANE Select ENSP00000228606.4:p.Arg243_Val246del
ENST00000228606.8:c.728_739del ENSP00000228606.4:p.Arg243_Val246del
ENST00000546567.5:c.23_34del ENSP00000449472.1:p.Arg8_Val11del
ENST00000546609.1:c.640_651del
ENST00000547344.5:n.867_878del
ENST00000547451.1:n.528_539del
NM_000785.3:c.728_739del NP_000776.1:p.Arg243_Val246del
NM_000785.4:c.728_739del MANE Select NP_000776.1:p.Arg243_Val246del
Search 100 bp 5'
Search 100 bp 3'