Canonical Allele Identifier: CA539840597
Gene: CYP27A1 HGNC NCBI

Linked Data

dbSNP Id: rs1490486228
gnomAD v2: 2-219678749-C-CAACACGCTGACATGGGCCCTGTACCACCTCTCAAAGGACCCT
gnomAD v4: 2-218814026-C-CAACACGCTGACATGGGCCCTGTACCACCTCTCAAAGGACCCT
MyVariant Identifiers: chr2:g.219678749_219678750insAACACGCTGACATGGGCCCTGTACCACCTCTCAAAGGACCCT (hg19) chr2:g.218814026_218814027insAACACGCTGACATGGGCCCTGTACCACCTCTCAAAGGACCCT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814027_218814068dup , CM000664.2:g.218814027_218814068dup GRCh38
NC_000002.11:g.219678750_219678791dup , CM000664.1:g.219678750_219678791dup GRCh37
NC_000002.10:g.219386994_219387035dup NCBI36
NG_007959.1:g.37279_37320dup

Transcript Alleles

HGVS Amino-acid change
ENST00000258415.9:c.1024_1065dup MANE Select ENSP00000258415.4:p.Pro355_Glu356insAsnThrLeuThrTrpAlaLeuTyrH...
ENST00000258415.8:c.1024_1065dup ENSP00000258415.4:p.Pro355_Glu356insAsnThrLeuThrTrpAlaLeuTyrH...
ENST00000466602.1:n.1146_1187dup
ENST00000494263.5:n.1458_1499dup
NM_000784.3:c.1024_1065dup NP_000775.1:p.Pro355_Glu356insAsnThrLeuThrTrpAlaLeuTyrHisLeuS...
XM_017003488.2:c.604_645dup XP_016858977.1:p.Pro215_Glu216insAsnThrLeuThrTrpAlaLeuTyrHisL...
NM_000784.4:c.1024_1065dup MANE Select NP_000775.1:p.Pro355_Glu356insAsnThrLeuThrTrpAlaLeuTyrHisLeuS...
Search 100 bp 5'
Search 100 bp 3'