Canonical Allele Identifier: CA2663167197

Gene: CYP27A1

Linked Data

• gnomAD v4: 2-218812828-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218812832del , CM000664.2:g.218812832del	GRCh38
NC_000002.11:g.219677555del , CM000664.1:g.219677555del	GRCh37
NC_000002.10:g.219385799del	NCBI36
NG_007959.1:g.36084del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258415.9:c.844+83del MANE Select	ENSP00000258415.4:n.844+83del
ENST00000258415.8:c.844+83del	ENSP00000258415.4:n.844+83del
ENST00000411688.1:c.562+83del	ENSP00000392671.1:n.562+83del
ENST00000445971.1:c.*305+83del	ENSP00000404945.1:n.*305+83del
ENST00000466602.1:n.875del
ENST00000494263.5:n.1278+83del
NM_000784.3:c.844+83del	NP_000775.1:n.844+83del
XM_017003488.2:c.424+83del	XP_016858977.1:n.424+83del
NM_000784.4:c.844+83del MANE Select	NP_000775.1:n.844+83del