Canonical Allele Identifier: CA2038987272

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57764257_57764258delinsAC , CM000674.2:g.57764257_57764258delinsAC	GRCh38
NC_000012.11:g.58158040_58158041delinsAC , CM000674.1:g.58158040_58158041delinsAC	GRCh37
NC_000012.10:g.56444307_56444308delinsAC	NCBI36
NG_007076.1:g.7936_7937delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1218-82_1218-81delinsGT	ENSP00000518840.1:n.1218-82_1218-81delinsGT
ENST00000713545.1:c.*142-82_*142-81delinsGT	ENSP00000518841.1:n.*142-82_*142-81delinsGT
ENST00000228606.9:c.1137-82_1137-81delinsGT MANE Select	ENSP00000228606.4:n.1137-82_1137-81delinsGT
ENST00000228606.8:c.1137-82_1137-81delinsGT	ENSP00000228606.4:n.1137-82_1137-81delinsGT
ENST00000546567.5:c.432-82_432-81delinsGT	ENSP00000449472.1:n.432-82_432-81delinsGT
ENST00000547344.5:n.1276-82_1276-81delinsGT
NM_000785.3:c.1137-82_1137-81delinsGT	NP_000776.1:n.1137-82_1137-81delinsGT
NM_000785.4:c.1137-82_1137-81delinsGT MANE Select	NP_000776.1:n.1137-82_1137-81delinsGT