Canonical Allele Identifier: CA2619514846
Gene: CYP27B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57763716_57763829del , CM000674.2:g.57763716_57763829del GRCh38
NC_000012.11:g.58157499_58157612del , CM000674.1:g.58157499_58157612del GRCh37
NC_000012.10:g.56443766_56443879del NCBI36
NG_007076.1:g.8366_8479del

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1297-20_1390del
ENST00000713545.1:c.*221-20_*314del
ENST00000228606.9:c.1216-20_1309del
ENST00000228606.8:c.1216-20_1309del
ENST00000547344.5:n.1355-20_1448del
NM_000785.3:c.1216-20_1309del
NM_000785.4:c.1216-20_1309del