Canonical Allele Identifier: CA2663164995

Gene: CYP27A1

Linked Data

• gnomAD v4: 2-218782581-CAGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218782584_218782586del , CM000664.2:g.218782584_218782586del	GRCh38
NC_000002.11:g.219647307_219647309del , CM000664.1:g.219647307_219647309del	GRCh37
NC_000002.10:g.219355551_219355553del	NCBI36
NG_007959.1:g.5836_5838del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258415.9:c.255+147_255+149del MANE Select	ENSP00000258415.4:n.255+147_255+149del
ENST00000258415.8:c.255+147_255+149del	ENSP00000258415.4:n.255+147_255+149del
ENST00000445971.1:c.255+147_255+149del	ENSP00000404945.1:n.255+147_255+149del
ENST00000466602.1:n.264+147_264+149del
ENST00000494263.5:n.689+147_689+149del
NM_000784.3:c.255+147_255+149del	NP_000775.1:n.255+147_255+149del
XM_017003488.2:c.26+147_26+149del	XP_016858977.1:n.26+147_26+149del
NM_000784.4:c.255+147_255+149del MANE Select	NP_000775.1:n.255+147_255+149del