Canonical Allele Identifier: CA65813847
Gene: CYP27A1 HGNC NCBI

Linked Data

dbSNP Id: rs775750983
gnomAD v2: 2-219647393-AG-A
gnomAD v3: 2-218782670-AG-A
gnomAD v4: 2-218782670-AG-A
MyVariant Identifiers: chr2:g.219647394del (hg19) chr2:g.218782671del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218782677del , CM000664.2:g.218782677del GRCh38
NC_000002.11:g.219647400del , CM000664.1:g.219647400del GRCh37
NC_000002.10:g.219355644del NCBI36
NG_007959.1:g.5929del

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.255+240del MANE Select ENSP00000258415.4:n.255+240del
ENST00000258415.8:c.255+240del ENSP00000258415.4:n.255+240del
ENST00000445971.1:c.255+240del ENSP00000404945.1:n.255+240del
ENST00000466602.1:n.264+240del
ENST00000494263.5:n.689+240del
NM_000784.3:c.255+240del NP_000775.1:n.255+240del
XM_017003488.2:c.26+240del XP_016858977.1:n.26+240del
NM_000784.4:c.255+240del MANE Select NP_000775.1:n.255+240del
Search 100 bp 5'
Search 100 bp 3'