Canonical Allele Identifier: CA2038990450

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765942_57765943delinsCG , CM000674.2:g.57765942_57765943delinsCG	GRCh38
NC_000012.11:g.58159725_58159726delinsCG , CM000674.1:g.58159725_58159726delinsCG	GRCh37
NC_000012.10:g.56445992_56445993delinsCG	NCBI36
NG_007076.1:g.6251_6252delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.298+64_298+65delinsCG
ENST00000713544.1:c.386+64_386+65delinsCG	ENSP00000518840.1:n.386+64_386+65delinsCG
ENST00000713545.1:c.386+64_386+65delinsCG	ENSP00000518841.1:n.386+64_386+65delinsCG
ENST00000228606.9:c.386+64_386+65delinsCG MANE Select	ENSP00000228606.4:n.386+64_386+65delinsCG
ENST00000228606.8:c.386+64_386+65delinsCG	ENSP00000228606.4:n.386+64_386+65delinsCG
ENST00000546496.1:n.214+64_214+65delinsCG
ENST00000546609.1:c.298+64_298+65delinsCG
ENST00000547344.5:n.440+64_440+65delinsCG
ENST00000552186.1:n.505+64_505+65delinsCG
NM_000785.3:c.386+64_386+65delinsCG	NP_000776.1:n.386+64_386+65delinsCG
NM_000785.4:c.386+64_386+65delinsCG MANE Select	NP_000776.1:n.386+64_386+65delinsCG