Canonical Allele Identifier: CA2619515439
Gene: CYP27B1 HGNC NCBI

Linked Data

gnomAD v4: 12-57764192-CA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764196del , CM000674.2:g.57764196del GRCh38
NC_000012.11:g.58157979del , CM000674.1:g.58157979del GRCh37
NC_000012.10:g.56444246del NCBI36
NG_007076.1:g.8001del

Transcript Alleles

HGVS Amino-acid change
ENST00000713544.1:c.1218-17del ENSP00000518840.1:n.1218-17del
ENST00000713545.1:c.*142-17del ENSP00000518841.1:n.*142-17del
ENST00000228606.9:c.1137-17del MANE Select ENSP00000228606.4:n.1137-17del
ENST00000228606.8:c.1137-17del ENSP00000228606.4:n.1137-17del
ENST00000546567.5:c.432-17del ENSP00000449472.1:n.432-17del
ENST00000547344.5:n.1276-17del
NM_000785.3:c.1137-17del NP_000776.1:n.1137-17del
NM_000785.4:c.1137-17del MANE Select NP_000776.1:n.1137-17del
Search 100 bp 5'
Search 100 bp 3'