Canonical Allele Identifier: CA2562454120

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57763865_57763866insTGGGG , CM000674.2:g.57763865_57763866insTGGGG	GRCh38
NC_000012.11:g.58157648_58157649insTGGGG , CM000674.1:g.58157648_58157649insTGGGG	GRCh37
NC_000012.10:g.56443915_56443916insTGGGG	NCBI36
NG_007076.1:g.8329_8330insCCCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1297-57_1297-56insCCCAC	ENSP00000518840.1:n.1297-57_1297-56insCCCAC
ENST00000713545.1:c.*221-57_*221-56insCCCAC	ENSP00000518841.1:n.*221-57_*221-56insCCCAC
ENST00000228606.9:c.1216-57_1216-56insCCCAC MANE Select	ENSP00000228606.4:n.1216-57_1216-56insCCCAC
ENST00000228606.8:c.1216-57_1216-56insCCCAC	ENSP00000228606.4:n.1216-57_1216-56insCCCAC
ENST00000547344.5:n.1355-57_1355-56insCCCAC
NM_000785.3:c.1216-57_1216-56insCCCAC	NP_000776.1:n.1216-57_1216-56insCCCAC
NM_000785.4:c.1216-57_1216-56insCCCAC MANE Select	NP_000776.1:n.1216-57_1216-56insCCCAC