Canonical Allele Identifier: CA2619516104
Gene: CYP27B1 HGNC NCBI

Linked Data

gnomAD v4: 12-57764542-G-GT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764544dup , CM000674.2:g.57764544dup GRCh38
NC_000012.11:g.58158327dup , CM000674.1:g.58158327dup GRCh37
NC_000012.10:g.56444594dup NCBI36
NG_007076.1:g.7651dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1052dup ENSP00000518840.1:p.Asn351LysfsTer9
ENST00000713545.1:c.1029dup ENSP00000518841.1:p.His344ThrfsTer28
ENST00000228606.9:c.971dup MANE Select ENSP00000228606.4:p.Asn324LysfsTer9
ENST00000228606.8:c.971dup ENSP00000228606.4:p.Asn324LysfsTer9
ENST00000546567.5:c.266dup ENSP00000449472.1:p.Asn89LysfsTer9
ENST00000547344.5:n.1110dup
NM_000785.3:c.971dup NP_000776.1:p.Asn324LysfsTer9
NM_000785.4:c.971dup MANE Select NP_000776.1:p.Asn324LysfsTer9
Search 100 bp 5'
Search 100 bp 3'