Canonical Allele Identifier: CA1328916343

Gene: CYP27A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218782670_218782671delinsAG , CM000664.2:g.218782670_218782671delinsAG	GRCh38
NC_000002.11:g.219647393_219647394delinsAG , CM000664.1:g.219647393_219647394delinsAG	GRCh37
NC_000002.10:g.219355637_219355638delinsAG	NCBI36
NG_007959.1:g.5922_5923delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258415.9:c.255+233_255+234delinsAG MANE Select	ENSP00000258415.4:n.255+233_255+234delinsAG
ENST00000258415.8:c.255+233_255+234delinsAG	ENSP00000258415.4:n.255+233_255+234delinsAG
ENST00000445971.1:c.255+233_255+234delinsAG	ENSP00000404945.1:n.255+233_255+234delinsAG
ENST00000466602.1:n.264+233_264+234delinsAG
ENST00000494263.5:n.689+233_689+234delinsAG
NM_000784.3:c.255+233_255+234delinsAG	NP_000775.1:n.255+233_255+234delinsAG
XM_017003488.2:c.26+233_26+234delinsAG	XP_016858977.1:n.26+233_26+234delinsAG
NM_000784.4:c.255+233_255+234delinsAG MANE Select	NP_000775.1:n.255+233_255+234delinsAG