Canonical Allele Identifier: CA2663164966

Gene: CYP27A1

Linked Data

• gnomAD v4: 2-218782563-T-TGGTCATAAACTGG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218782564_218782576dup , CM000664.2:g.218782564_218782576dup	GRCh38
NC_000002.11:g.219647287_219647299dup , CM000664.1:g.219647287_219647299dup	GRCh37
NC_000002.10:g.219355531_219355543dup	NCBI36
NG_007959.1:g.5816_5828dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258415.9:c.255+127_255+139dup MANE Select	ENSP00000258415.4:n.255+127_255+139dup
ENST00000258415.8:c.255+127_255+139dup	ENSP00000258415.4:n.255+127_255+139dup
ENST00000445971.1:c.255+127_255+139dup	ENSP00000404945.1:n.255+127_255+139dup
ENST00000466602.1:n.264+127_264+139dup
ENST00000494263.5:n.689+127_689+139dup
NM_000784.3:c.255+127_255+139dup	NP_000775.1:n.255+127_255+139dup
XM_017003488.2:c.26+127_26+139dup	XP_016858977.1:n.26+127_26+139dup
NM_000784.4:c.255+127_255+139dup MANE Select	NP_000775.1:n.255+127_255+139dup