Canonical Allele Identifier: CA2038987546
Gene: CYP27B1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764474_57764476delinsATC , CM000674.2:g.57764474_57764476delinsATC GRCh38
NC_000012.11:g.58158257_58158259delinsATC , CM000674.1:g.58158257_58158259delinsATC GRCh37
NC_000012.10:g.56444524_56444526delinsATC NCBI36
NG_007076.1:g.7718_7720delinsGAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1119_1121delinsGAT ENSP00000518840.1:p.Glu373=
ENST00000713545.1:c.*43_*45delinsGAT ENSP00000518841.1:n.*43_*45delinsGAT
ENST00000228606.9:c.1038_1040delinsGAT MANE Select ENSP00000228606.4:p.Glu346=
ENST00000228606.8:c.1038_1040delinsGAT ENSP00000228606.4:p.Glu346=
ENST00000546567.5:c.333_335delinsGAT ENSP00000449472.1:p.Glu111=
ENST00000547344.5:n.1177_1179delinsGAT
NM_000785.3:c.1038_1040delinsGAT NP_000776.1:p.Glu346=
NM_000785.4:c.1038_1040delinsGAT MANE Select NP_000776.1:p.Glu346=
Search 100 bp 5'
Search 100 bp 3'