Canonical Allele Identifier: CA539609603
Gene: CYP27A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218809439_218809440insTA , CM000664.2:g.218809439_218809440insTA GRCh38
NC_000002.11:g.219674162_219674163insTA , CM000664.1:g.219674162_219674163insTA GRCh37
NC_000002.10:g.219382406_219382407insTA NCBI36
NG_007959.1:g.32691_32692insTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.256-138_256-137insTA MANE Select ENSP00000258415.4:n.256-138_256-137insTA
ENST00000258415.8:c.256-138_256-137insTA ENSP00000258415.4:n.256-138_256-137insTA
ENST00000411688.1:c.-27-138_-27-137insTA ENSP00000392671.1:n.-27-138_-27-137insTA
ENST00000445971.1:c.256-2783_256-2782insTA ENSP00000404945.1:n.256-2783_256-2782insTA
ENST00000466602.1:n.265-2783_265-2782insTA
ENST00000494263.5:n.690-138_690-137insTA
NM_000784.3:c.256-138_256-137insTA NP_000775.1:n.256-138_256-137insTA
XM_017003488.2:c.27-2783_27-2782insTA XP_016858977.1:n.27-2783_27-2782insTA
NM_000784.4:c.256-138_256-137insTA MANE Select NP_000775.1:n.256-138_256-137insTA