Canonical Allele Identifier: CA1328916212
Gene: CYP27A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218782382_218782385delinsGCTT , CM000664.2:g.218782382_218782385delinsGCTT GRCh38
NC_000002.11:g.219647105_219647108delinsGCTT , CM000664.1:g.219647105_219647108delinsGCTT GRCh37
NC_000002.10:g.219355349_219355352delinsGCTT NCBI36
NG_007959.1:g.5634_5637delinsGCTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.200_203delinsGCTT MANE Select ENSP00000258415.4:p.Arg67=
ENST00000258415.8:c.200_203delinsGCTT ENSP00000258415.4:p.Arg67=
ENST00000445971.1:c.200_203delinsGCTT ENSP00000404945.1:p.Arg67=
ENST00000466602.1:n.209_212delinsGCTT
ENST00000494263.5:n.634_637delinsGCTT
NM_000784.3:c.200_203delinsGCTT NP_000775.1:p.Arg67=
XM_017003488.2:c.-30_-27delinsGCTT XP_016858977.1:n.-30_-27delinsGCTT
NM_000784.4:c.200_203delinsGCTT MANE Select NP_000775.1:p.Arg67=
Search 100 bp 5'
Search 100 bp 3'