Canonical Allele Identifier: CA2619519063

Gene: CYP27B1

Linked Data

• gnomAD v4: 12-57765968-T-TGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765970_57765972dup , CM000674.2:g.57765970_57765972dup	GRCh38
NC_000012.11:g.58159753_58159755dup , CM000674.1:g.58159753_58159755dup	GRCh37
NC_000012.10:g.56446020_56446022dup	NCBI36
NG_007076.1:g.6223_6225dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.298+36_298+38dup
ENST00000713544.1:c.386+36_386+38dup	ENSP00000518840.1:n.386+36_386+38dup
ENST00000713545.1:c.386+36_386+38dup	ENSP00000518841.1:n.386+36_386+38dup
ENST00000228606.9:c.386+36_386+38dup MANE Select	ENSP00000228606.4:n.386+36_386+38dup
ENST00000228606.8:c.386+36_386+38dup	ENSP00000228606.4:n.386+36_386+38dup
ENST00000546496.1:n.214+36_214+38dup
ENST00000546609.1:c.298+36_298+38dup
ENST00000547344.5:n.440+36_440+38dup
ENST00000552186.1:n.505+36_505+38dup
NM_000785.3:c.386+36_386+38dup	NP_000776.1:n.386+36_386+38dup
NM_000785.4:c.386+36_386+38dup MANE Select	NP_000776.1:n.386+36_386+38dup