Canonical Allele Identifier: CA2038990184

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765776_57765777delinsTC , CM000674.2:g.57765776_57765777delinsTC	GRCh38
NC_000012.11:g.58159559_58159560delinsTC , CM000674.1:g.58159559_58159560delinsTC	GRCh37
NC_000012.10:g.56445826_56445827delinsTC	NCBI36
NG_007076.1:g.6417_6418delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.298+230_298+231delinsGA
ENST00000713544.1:c.387-197_387-196delinsGA	ENSP00000518840.1:n.387-197_387-196delinsGA
ENST00000713545.1:c.387-220_387-219delinsGA	ENSP00000518841.1:n.387-220_387-219delinsGA
ENST00000228606.9:c.386+230_386+231delinsGA MANE Select	ENSP00000228606.4:n.386+230_386+231delinsGA
ENST00000228606.8:c.386+230_386+231delinsGA	ENSP00000228606.4:n.386+230_386+231delinsGA
ENST00000546496.1:n.214+230_214+231delinsGA
ENST00000546609.1:c.298+230_298+231delinsGA
ENST00000547344.5:n.440+230_440+231delinsGA
ENST00000552186.1:n.505+230_505+231delinsGA
NM_000785.3:c.386+230_386+231delinsGA	NP_000776.1:n.386+230_386+231delinsGA
NM_000785.4:c.386+230_386+231delinsGA MANE Select	NP_000776.1:n.386+230_386+231delinsGA