Canonical Allele Identifier: CA2518365845

Gene: CYP27A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218782608_218782609insT , CM000664.2:g.218782608_218782609insT	GRCh38
NC_000002.11:g.219647331_219647332insT , CM000664.1:g.219647331_219647332insT	GRCh37
NC_000002.10:g.219355575_219355576insT	NCBI36
NG_007959.1:g.5860_5861insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258415.9:c.255+171_255+172insT MANE Select	ENSP00000258415.4:n.255+171_255+172insT
ENST00000258415.8:c.255+171_255+172insT	ENSP00000258415.4:n.255+171_255+172insT
ENST00000445971.1:c.255+171_255+172insT	ENSP00000404945.1:n.255+171_255+172insT
ENST00000466602.1:n.264+171_264+172insT
ENST00000494263.5:n.689+171_689+172insT
NM_000784.3:c.255+171_255+172insT	NP_000775.1:n.255+171_255+172insT
XM_017003488.2:c.26+171_26+172insT	XP_016858977.1:n.26+171_26+172insT
NM_000784.4:c.255+171_255+172insT MANE Select	NP_000775.1:n.255+171_255+172insT