Canonical Allele Identifier: CA2038987192

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57764192_57764194delinsCAA , CM000674.2:g.57764192_57764194delinsCAA	GRCh38
NC_000012.11:g.58157975_58157977delinsCAA , CM000674.1:g.58157975_58157977delinsCAA	GRCh37
NC_000012.10:g.56444242_56444244delinsCAA	NCBI36
NG_007076.1:g.8000_8002delinsTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1218-18_1218-16delinsTTG	ENSP00000518840.1:n.1218-18_1218-16delinsTTG
ENST00000713545.1:c.*142-18_*142-16delinsTTG	ENSP00000518841.1:n.*142-18_*142-16delinsTTG
ENST00000228606.9:c.1137-18_1137-16delinsTTG MANE Select	ENSP00000228606.4:n.1137-18_1137-16delinsTTG
ENST00000228606.8:c.1137-18_1137-16delinsTTG	ENSP00000228606.4:n.1137-18_1137-16delinsTTG
ENST00000546567.5:c.432-18_432-16delinsTTG	ENSP00000449472.1:n.432-18_432-16delinsTTG
ENST00000547344.5:n.1276-18_1276-16delinsTTG
NM_000785.3:c.1137-18_1137-16delinsTTG	NP_000776.1:n.1137-18_1137-16delinsTTG
NM_000785.4:c.1137-18_1137-16delinsTTG MANE Select	NP_000776.1:n.1137-18_1137-16delinsTTG