Canonical Allele Identifier: CA2038988863

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765147_57765160delinsCGTGTCGGGTGGCA , CM000674.2:g.57765147_57765160delinsCGTGTCGGGTGGCA	GRCh38
NC_000012.11:g.58158930_58158943delinsCGTGTCGGGTGGCA , CM000674.1:g.58158930_58158943delinsCGTGTCGGGTGGCA	GRCh37
NC_000012.10:g.56445197_56445210delinsCGTGTCGGGTGGCA	NCBI36
NG_007076.1:g.7034_7047delinsTGCCACCCGACACG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.553_566delinsTGCCACCCGACACG
ENST00000713544.1:c.722_735delinsTGCCACCCGACACG	ENSP00000518840.1:p.Val241=
ENST00000713545.1:c.699_712delinsTGCCACCCGACACG	ENSP00000518841.1:p.Ser233=
ENST00000228606.9:c.641_654delinsTGCCACCCGACACG MANE Select	ENSP00000228606.4:p.Val214=
ENST00000228606.8:c.641_654delinsTGCCACCCGACACG	ENSP00000228606.4:p.Val214=
ENST00000546567.5:c.-65_-52delinsTGCCACCCGACACG	ENSP00000449472.1:n.-65_-52delinsTGCCACCCGACACG
ENST00000546609.1:c.553_566delinsTGCCACCCGACACG
ENST00000547344.5:n.780_793delinsTGCCACCCGACACG
ENST00000547451.1:n.441_454delinsTGCCACCCGACACG
NM_000785.3:c.641_654delinsTGCCACCCGACACG	NP_000776.1:p.Val214=
NM_000785.4:c.641_654delinsTGCCACCCGACACG MANE Select	NP_000776.1:p.Val214=