Canonical Allele Identifier: CA2663167849

Gene: CYP27A1

Linked Data

• gnomAD v4: 2-218813949-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218813950del , CM000664.2:g.218813950del	GRCh38
NC_000002.11:g.219678673del , CM000664.1:g.219678673del	GRCh37
NC_000002.10:g.219386917del	NCBI36
NG_007959.1:g.37202del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258415.9:c.1018-71del MANE Select	ENSP00000258415.4:n.1018-71del
ENST00000258415.8:c.1018-71del	ENSP00000258415.4:n.1018-71del
ENST00000445971.1:c.*479-71del	ENSP00000404945.1:n.*479-71del
ENST00000466602.1:n.1140-71del
ENST00000494263.5:n.1452-71del
NM_000784.3:c.1018-71del	NP_000775.1:n.1018-71del
XM_017003488.2:c.598-71del	XP_016858977.1:n.598-71del
NM_000784.4:c.1018-71del MANE Select	NP_000775.1:n.1018-71del