Canonical Allele Identifier: CA2038987706

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57764538_57764550delinsGCGTGTTGGACAC , CM000674.2:g.57764538_57764550delinsGCGTGTTGGACAC	GRCh38
NC_000012.11:g.58158321_58158333delinsGCGTGTTGGACAC , CM000674.1:g.58158321_58158333delinsGCGTGTTGGACAC	GRCh37
NC_000012.10:g.56444588_56444600delinsGCGTGTTGGACAC	NCBI36
NG_007076.1:g.7644_7656delinsGTGTCCAACACGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1045_1057delinsGTGTCCAACACGC	ENSP00000518840.1:p.Val349=
ENST00000713545.1:c.1022_1034delinsGTGTCCAACACGC	ENSP00000518841.1:p.Gly341=
ENST00000228606.9:c.964_976delinsGTGTCCAACACGC MANE Select	ENSP00000228606.4:p.Val322=
ENST00000228606.8:c.964_976delinsGTGTCCAACACGC	ENSP00000228606.4:p.Val322=
ENST00000546567.5:c.259_271delinsGTGTCCAACACGC	ENSP00000449472.1:p.Val87=
ENST00000547344.5:n.1103_1115delinsGTGTCCAACACGC
NM_000785.3:c.964_976delinsGTGTCCAACACGC	NP_000776.1:p.Val322=
NM_000785.4:c.964_976delinsGTGTCCAACACGC MANE Select	NP_000776.1:p.Val322=