Canonical Allele Identifier: CA2619515460

Gene: CYP27B1

Linked Data

• dbSNP Id: rs2140396430
• gnomAD v4: 12-57764201-GACA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57764206_57764208del , CM000674.2:g.57764206_57764208del	GRCh38
NC_000012.11:g.58157989_58157991del , CM000674.1:g.58157989_58157991del	GRCh37
NC_000012.10:g.56444256_56444258del	NCBI36
NG_007076.1:g.7990_7992del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1218-28_1218-26del	ENSP00000518840.1:n.1218-28_1218-26del
ENST00000713545.1:c.*142-28_*142-26del	ENSP00000518841.1:n.*142-28_*142-26del
ENST00000228606.9:c.1137-28_1137-26del MANE Select	ENSP00000228606.4:n.1137-28_1137-26del
ENST00000228606.8:c.1137-28_1137-26del	ENSP00000228606.4:n.1137-28_1137-26del
ENST00000546567.5:c.432-28_432-26del	ENSP00000449472.1:n.432-28_432-26del
ENST00000547344.5:n.1276-28_1276-26del
NM_000785.3:c.1137-28_1137-26del	NP_000776.1:n.1137-28_1137-26del
NM_000785.4:c.1137-28_1137-26del MANE Select	NP_000776.1:n.1137-28_1137-26del