Canonical Allele Identifier: CA1328929001

Gene: CYP27A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218812906_218812909delinsTCTC , CM000664.2:g.218812906_218812909delinsTCTC	GRCh38
NC_000002.11:g.219677629_219677632delinsTCTC , CM000664.1:g.219677629_219677632delinsTCTC	GRCh37
NC_000002.10:g.219385873_219385876delinsTCTC	NCBI36
NG_007959.1:g.36158_36161delinsTCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258415.9:c.845-18_845-15delinsTCTC MANE Select	ENSP00000258415.4:n.845-18_845-15delinsTCTC
ENST00000258415.8:c.845-18_845-15delinsTCTC	ENSP00000258415.4:n.845-18_845-15delinsTCTC
ENST00000411688.1:c.563-18_563-15delinsTCTC	ENSP00000392671.1:n.563-18_563-15delinsTCTC
ENST00000445971.1:c.*306-18_*306-15delinsTCTC	ENSP00000404945.1:n.*306-18_*306-15delinsTCTC
ENST00000466602.1:n.949_952delinsTCTC
ENST00000494263.5:n.1279-18_1279-15delinsTCTC
NM_000784.3:c.845-18_845-15delinsTCTC	NP_000775.1:n.845-18_845-15delinsTCTC
XM_017003488.2:c.425-18_425-15delinsTCTC	XP_016858977.1:n.425-18_425-15delinsTCTC
NM_000784.4:c.845-18_845-15delinsTCTC MANE Select	NP_000775.1:n.845-18_845-15delinsTCTC