Canonical Allele Identifier: CA2619515534

Gene: CYP27B1

Linked Data

• gnomAD v4: 12-57764232-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57764233_57764234del , CM000674.2:g.57764233_57764234del	GRCh38
NC_000012.11:g.58158016_58158017del , CM000674.1:g.58158016_58158017del	GRCh37
NC_000012.10:g.56444283_56444284del	NCBI36
NG_007076.1:g.7960_7961del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1218-58_1218-57del	ENSP00000518840.1:n.1218-58_1218-57del
ENST00000713545.1:c.*142-58_*142-57del	ENSP00000518841.1:n.*142-58_*142-57del
ENST00000228606.9:c.1137-58_1137-57del MANE Select	ENSP00000228606.4:n.1137-58_1137-57del
ENST00000228606.8:c.1137-58_1137-57del	ENSP00000228606.4:n.1137-58_1137-57del
ENST00000546567.5:c.432-58_432-57del	ENSP00000449472.1:n.432-58_432-57del
ENST00000547344.5:n.1276-58_1276-57del
NM_000785.3:c.1137-58_1137-57del	NP_000776.1:n.1137-58_1137-57del
NM_000785.4:c.1137-58_1137-57del MANE Select	NP_000776.1:n.1137-58_1137-57del