Canonical Allele Identifier: CA2695216958

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57766079_57766080delinsAA , CM000674.2:g.57766079_57766080delinsAA	GRCh38
NC_000012.11:g.58159862_58159863delinsAA , CM000674.1:g.58159862_58159863delinsAA	GRCh37
NC_000012.10:g.56446129_56446130delinsAA	NCBI36
NG_007076.1:g.6114_6115delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.225_226delinsTT
ENST00000713544.1:c.313_314delinsTT	ENSP00000518840.1:p.Pro105Phe
ENST00000713545.1:c.313_314delinsTT	ENSP00000518841.1:p.Pro105Phe
ENST00000228606.9:c.313_314delinsTT MANE Select	ENSP00000228606.4:p.Pro105Phe
ENST00000228606.8:c.313_314delinsTT	ENSP00000228606.4:p.Pro105Phe
ENST00000546496.1:n.141_142delinsTT
ENST00000546609.1:c.225_226delinsTT
ENST00000547344.5:n.367_368delinsTT
ENST00000552186.1:n.432_433delinsTT
NM_000785.3:c.313_314delinsTT	NP_000776.1:p.Pro105Phe
NM_000785.4:c.313_314delinsTT MANE Select	NP_000776.1:p.Pro105Phe