Canonical Allele Identifier: CA2038991126

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57766240_57766241delinsGA , CM000674.2:g.57766240_57766241delinsGA	GRCh38
NC_000012.11:g.58160023_58160024delinsGA , CM000674.1:g.58160023_58160024delinsGA	GRCh37
NC_000012.10:g.56446290_56446291delinsGA	NCBI36
NG_007076.1:g.5953_5954delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.108-44_108-43delinsTC
ENST00000713544.1:c.196-44_196-43delinsTC	ENSP00000518840.1:n.196-44_196-43delinsTC
ENST00000713545.1:c.196-44_196-43delinsTC	ENSP00000518841.1:n.196-44_196-43delinsTC
ENST00000228606.9:c.196-44_196-43delinsTC MANE Select	ENSP00000228606.4:n.196-44_196-43delinsTC
ENST00000228606.8:c.196-44_196-43delinsTC	ENSP00000228606.4:n.196-44_196-43delinsTC
ENST00000546496.1:n.24-44_24-43delinsTC
ENST00000546609.1:c.108-44_108-43delinsTC
ENST00000547344.5:n.250-44_250-43delinsTC
ENST00000552186.1:n.271_272delinsTC
NM_000785.3:c.196-44_196-43delinsTC	NP_000776.1:n.196-44_196-43delinsTC
NM_000785.4:c.196-44_196-43delinsTC MANE Select	NP_000776.1:n.196-44_196-43delinsTC