Canonical Allele Identifier: CA1328916300

Gene: CYP27A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218782549_218782550delinsAC , CM000664.2:g.218782549_218782550delinsAC	GRCh38
NC_000002.11:g.219647272_219647273delinsAC , CM000664.1:g.219647272_219647273delinsAC	GRCh37
NC_000002.10:g.219355516_219355517delinsAC	NCBI36
NG_007959.1:g.5801_5802delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258415.9:c.255+112_255+113delinsAC MANE Select	ENSP00000258415.4:n.255+112_255+113delinsAC
ENST00000258415.8:c.255+112_255+113delinsAC	ENSP00000258415.4:n.255+112_255+113delinsAC
ENST00000445971.1:c.255+112_255+113delinsAC	ENSP00000404945.1:n.255+112_255+113delinsAC
ENST00000466602.1:n.264+112_264+113delinsAC
ENST00000494263.5:n.689+112_689+113delinsAC
NM_000784.3:c.255+112_255+113delinsAC	NP_000775.1:n.255+112_255+113delinsAC
XM_017003488.2:c.26+112_26+113delinsAC	XP_016858977.1:n.26+112_26+113delinsAC
NM_000784.4:c.255+112_255+113delinsAC MANE Select	NP_000775.1:n.255+112_255+113delinsAC