Canonical Allele Identifier: CA2754297238

Gene: CYP27A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218813875_218813876insAAAG , CM000664.2:g.218813875_218813876insAAAG	GRCh38
NC_000002.11:g.219678598_219678599insAAAG , CM000664.1:g.219678598_219678599insAAAG	GRCh37
NC_000002.10:g.219386842_219386843insAAAG	NCBI36
NG_007959.1:g.37127_37128insAAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258415.9:c.1018-146_1018-145insAAAG MANE Select	ENSP00000258415.4:n.1018-146_1018-145insAAAG
ENST00000258415.8:c.1018-146_1018-145insAAAG	ENSP00000258415.4:n.1018-146_1018-145insAAAG
ENST00000445971.1:c.*479-146_*479-145insAAAG	ENSP00000404945.1:n.*479-146_*479-145insAAAG
ENST00000466602.1:n.1140-146_1140-145insAAAG
ENST00000494263.5:n.1452-146_1452-145insAAAG
NM_000784.3:c.1018-146_1018-145insAAAG	NP_000775.1:n.1018-146_1018-145insAAAG
XM_017003488.2:c.598-146_598-145insAAAG	XP_016858977.1:n.598-146_598-145insAAAG
NM_000784.4:c.1018-146_1018-145insAAAG MANE Select	NP_000775.1:n.1018-146_1018-145insAAAG