Canonical Allele Identifier: CA1328928821

Gene: CYP27A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218812568_218812581delinsGTTCGAGAAACGCA , CM000664.2:g.218812568_218812581delinsGTTCGAGAAACGCA	GRCh38
NC_000002.11:g.219677291_219677304delinsGTTCGAGAAACGCA , CM000664.1:g.219677291_219677304delinsGTTCGAGAAACGCA	GRCh37
NC_000002.10:g.219385535_219385548delinsGTTCGAGAAACGCA	NCBI36
NG_007959.1:g.35820_35833delinsGTTCGAGAAACGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258415.9:c.663_676delinsGTTCGAGAAACGCA MANE Select	ENSP00000258415.4:p.Leu221=
ENST00000258415.8:c.663_676delinsGTTCGAGAAACGCA	ENSP00000258415.4:p.Leu221=
ENST00000411688.1:c.381_394delinsGTTCGAGAAACGCA	ENSP00000392671.1:p.Leu127=
ENST00000445971.1:c.*124_*137delinsGTTCGAGAAACGCA	ENSP00000404945.1:n.*124_*137delinsGTTCGAGAAACGCA
ENST00000466602.1:n.611_624delinsGTTCGAGAAACGCA
ENST00000494263.5:n.1097_1110delinsGTTCGAGAAACGCA
NM_000784.3:c.663_676delinsGTTCGAGAAACGCA	NP_000775.1:p.Leu221=
XM_017003488.2:c.243_256delinsGTTCGAGAAACGCA	XP_016858977.1:p.Leu81=
NM_000784.4:c.663_676delinsGTTCGAGAAACGCA MANE Select	NP_000775.1:p.Leu221=