Canonical Allele Identifier: CA1328916317

Gene: CYP27A1

Linked Data

• dbSNP Id: rs1943403390

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218782611_218782612del , CM000664.2:g.218782611_218782612del	GRCh38
NC_000002.11:g.219647334_219647335del , CM000664.1:g.219647334_219647335del	GRCh37
NC_000002.10:g.219355578_219355579del	NCBI36
NG_007959.1:g.5863_5864del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258415.9:c.255+174_255+175del MANE Select	ENSP00000258415.4:n.255+174_255+175del
ENST00000258415.8:c.255+174_255+175del	ENSP00000258415.4:n.255+174_255+175del
ENST00000445971.1:c.255+174_255+175del	ENSP00000404945.1:n.255+174_255+175del
ENST00000466602.1:n.264+174_264+175del
ENST00000494263.5:n.689+174_689+175del
NM_000784.3:c.255+174_255+175del	NP_000775.1:n.255+174_255+175del
XM_017003488.2:c.26+174_26+175del	XP_016858977.1:n.26+174_26+175del
NM_000784.4:c.255+174_255+175del MANE Select	NP_000775.1:n.255+174_255+175del