Canonical Allele Identifier: CA1328929613

Gene: CYP27A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218814207_218814208delinsTG , CM000664.2:g.218814207_218814208delinsTG	GRCh38
NC_000002.11:g.219678930_219678931delinsTG , CM000664.1:g.219678930_219678931delinsTG	GRCh37
NC_000002.10:g.219387174_219387175delinsTG	NCBI36
NG_007959.1:g.37459_37460delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258415.9:c.1184+20_1184+21delinsTG MANE Select	ENSP00000258415.4:n.1184+20_1184+21delinsTG
ENST00000258415.8:c.1184+20_1184+21delinsTG	ENSP00000258415.4:n.1184+20_1184+21delinsTG
ENST00000494263.5:n.1638_1639delinsTG
NM_000784.3:c.1184+20_1184+21delinsTG	NP_000775.1:n.1184+20_1184+21delinsTG
XM_017003488.2:c.764+20_764+21delinsTG	XP_016858977.1:n.764+20_764+21delinsTG
NM_000784.4:c.1184+20_1184+21delinsTG MANE Select	NP_000775.1:n.1184+20_1184+21delinsTG