Canonical Allele Identifier: CA1328929592
Gene: CYP27A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814176_218814178delinsGGA , CM000664.2:g.218814176_218814178delinsGGA GRCh38
NC_000002.11:g.219678899_219678901delinsGGA , CM000664.1:g.219678899_219678901delinsGGA GRCh37
NC_000002.10:g.219387143_219387145delinsGGA NCBI36
NG_007959.1:g.37428_37430delinsGGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.1173_1175delinsGGA MANE Select ENSP00000258415.4:p.Lys391=
ENST00000258415.8:c.1173_1175delinsGGA ENSP00000258415.4:p.Lys391=
ENST00000494263.5:n.1607_1609delinsGGA
NM_000784.3:c.1173_1175delinsGGA NP_000775.1:p.Lys391=
XM_017003488.2:c.753_755delinsGGA XP_016858977.1:p.Lys251=
NM_000784.4:c.1173_1175delinsGGA MANE Select NP_000775.1:p.Lys391=
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Search 100 bp 3'