Canonical Allele Identifier: CA2038991260

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57766355_57766359delinsCCTCT , CM000674.2:g.57766355_57766359delinsCCTCT	GRCh38
NC_000012.11:g.58160138_58160142delinsCCTCT , CM000674.1:g.58160138_58160142delinsCCTCT	GRCh37
NC_000012.10:g.56446405_56446409delinsCCTCT	NCBI36
NG_007076.1:g.5835_5839delinsAGAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.108-162_108-158delinsAGAGG
ENST00000713544.1:c.196-162_196-158delinsAGAGG	ENSP00000518840.1:n.196-162_196-158delinsAGAGG
ENST00000713545.1:c.196-162_196-158delinsAGAGG	ENSP00000518841.1:n.196-162_196-158delinsAGAGG
ENST00000228606.9:c.196-162_196-158delinsAGAGG MANE Select	ENSP00000228606.4:n.196-162_196-158delinsAGAGG
ENST00000228606.8:c.196-162_196-158delinsAGAGG	ENSP00000228606.4:n.196-162_196-158delinsAGAGG
ENST00000546496.1:n.23+75_23+79delinsAGAGG
ENST00000546609.1:c.108-162_108-158delinsAGAGG
ENST00000547344.5:n.250-162_250-158delinsAGAGG
ENST00000552186.1:n.153_157delinsAGAGG
NM_000785.3:c.196-162_196-158delinsAGAGG	NP_000776.1:n.196-162_196-158delinsAGAGG
NM_000785.4:c.196-162_196-158delinsAGAGG MANE Select	NP_000776.1:n.196-162_196-158delinsAGAGG