Canonical Allele Identifier: CA2695216957

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57766073_57766083del , CM000674.2:g.57766073_57766083del	GRCh38
NC_000012.11:g.58159856_58159866del , CM000674.1:g.58159856_58159866del	GRCh37
NC_000012.10:g.56446123_56446133del	NCBI36
NG_007076.1:g.6112_6122del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.223_233del
ENST00000713544.1:c.311_321del	ENSP00000518840.1:p.Arg104LeufsTer?
ENST00000713545.1:c.311_321del	ENSP00000518841.1:p.Arg104LeufsTer?
ENST00000228606.9:c.311_321del MANE Select	ENSP00000228606.4:p.Arg104LeufsTer?
ENST00000228606.8:c.311_321del	ENSP00000228606.4:p.Arg104LeufsTer?
ENST00000546496.1:n.139_149del
ENST00000546609.1:c.223_233del
ENST00000547344.5:n.365_375del
ENST00000552186.1:n.430_440del
NM_000785.3:c.311_321del	NP_000776.1:p.Arg104LeufsTer?
NM_000785.4:c.311_321del MANE Select	NP_000776.1:p.Arg104LeufsTer?