Canonical Allele Identifier: CA2038987265

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57764242_57764244delinsGTT , CM000674.2:g.57764242_57764244delinsGTT	GRCh38
NC_000012.11:g.58158025_58158027delinsGTT , CM000674.1:g.58158025_58158027delinsGTT	GRCh37
NC_000012.10:g.56444292_56444294delinsGTT	NCBI36
NG_007076.1:g.7950_7952delinsAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1218-68_1218-66delinsAAC	ENSP00000518840.1:n.1218-68_1218-66delinsAAC
ENST00000713545.1:c.*142-68_*142-66delinsAAC	ENSP00000518841.1:n.*142-68_*142-66delinsAAC
ENST00000228606.9:c.1137-68_1137-66delinsAAC MANE Select	ENSP00000228606.4:n.1137-68_1137-66delinsAAC
ENST00000228606.8:c.1137-68_1137-66delinsAAC	ENSP00000228606.4:n.1137-68_1137-66delinsAAC
ENST00000546567.5:c.432-68_432-66delinsAAC	ENSP00000449472.1:n.432-68_432-66delinsAAC
ENST00000547344.5:n.1276-68_1276-66delinsAAC
NM_000785.3:c.1137-68_1137-66delinsAAC	NP_000776.1:n.1137-68_1137-66delinsAAC
NM_000785.4:c.1137-68_1137-66delinsAAC MANE Select	NP_000776.1:n.1137-68_1137-66delinsAAC