Canonical Allele Identifier: CA2039015980
Gene: CYP27B1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764024_57764028delinsGTGTT , CM000674.2:g.57764024_57764028delinsGTGTT GRCh38
NC_000012.11:g.58157807_58157811delinsGTGTT , CM000674.1:g.58157807_58157811delinsGTGTT GRCh37
NC_000012.10:g.56444074_56444078delinsGTGTT NCBI36
NG_007076.1:g.8166_8170delinsAACAC

Transcript Alleles

HGVS Amino-acid change
ENST00000713544.1:c.1296+70_1296+74delinsAACAC ENSP00000518840.1:n.1296+70_1296+74delins...
ENST00000713545.1:c.*220+70_*220+74delinsAACAC ENSP00000518841.1:n.*220+70_*220+74delins...
ENST00000228606.9:c.1215+70_1215+74delinsAACAC MANE Select ENSP00000228606.4:n.1215+70_1215+74delins...
ENST00000228606.8:c.1215+70_1215+74delinsAACAC ENSP00000228606.4:n.1215+70_1215+74delins...
ENST00000547344.5:n.1354+70_1354+74delinsAACAC
NM_000785.3:c.1215+70_1215+74delinsAACAC NP_000776.1:n.1215+70_1215+74delinsAACAC
NM_000785.4:c.1215+70_1215+74delinsAACAC MANE Select NP_000776.1:n.1215+70_1215+74delinsAACAC
Search 100 bp 5'
Search 100 bp 3'