Canonical Allele Identifier: CA2570758100

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57763817_57763818insGGG , CM000674.2:g.57763817_57763818insGGG	GRCh38
NC_000012.11:g.58157600_58157601insGGG , CM000674.1:g.58157600_58157601insGGG	GRCh37
NC_000012.10:g.56443867_56443868insGGG	NCBI36
NG_007076.1:g.8376_8377insCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1297-10_1297-9insCCC	ENSP00000518840.1:n.1297-10_1297-9insCCC
ENST00000713545.1:c.*221-10_*221-9insCCC	ENSP00000518841.1:n.*221-10_*221-9insCCC
ENST00000228606.9:c.1216-10_1216-9insCCC MANE Select	ENSP00000228606.4:n.1216-10_1216-9insCCC
ENST00000228606.8:c.1216-10_1216-9insCCC	ENSP00000228606.4:n.1216-10_1216-9insCCC
ENST00000547344.5:n.1355-10_1355-9insCCC
NM_000785.3:c.1216-10_1216-9insCCC	NP_000776.1:n.1216-10_1216-9insCCC
NM_000785.4:c.1216-10_1216-9insCCC MANE Select	NP_000776.1:n.1216-10_1216-9insCCC