Canonical Allele Identifier: CA2619516751

Gene: CYP27B1

Linked Data

• gnomAD v4: 12-57765059-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765060_57765061del , CM000674.2:g.57765060_57765061del	GRCh38
NC_000012.11:g.58158843_58158844del , CM000674.1:g.58158843_58158844del	GRCh37
NC_000012.10:g.56445110_56445111del	NCBI36
NG_007076.1:g.7133_7134del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.652_653del
ENST00000713544.1:c.821_822del	ENSP00000518840.1:p.Pro274ArgfsTer?
ENST00000713545.1:c.798_799del	ENSP00000518841.1:p.Trp267GlyfsTer?
ENST00000228606.9:c.740_741del MANE Select	ENSP00000228606.4:p.Pro247ArgfsTer?
ENST00000228606.8:c.740_741del	ENSP00000228606.4:p.Pro247ArgfsTer?
ENST00000546567.5:c.35_36del	ENSP00000449472.1:p.Pro12ArgfsTer?
ENST00000546609.1:c.652_653del
ENST00000547344.5:n.879_880del
ENST00000547451.1:n.540_541del
NM_000785.3:c.740_741del	NP_000776.1:p.Pro247ArgfsTer?
NM_000785.4:c.740_741del MANE Select	NP_000776.1:p.Pro247ArgfsTer?