Canonical Allele Identifier: CA2575206570

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57764590_57764591del , CM000674.2:g.57764590_57764591del	GRCh38
NC_000012.11:g.58158373_58158374del , CM000674.1:g.58158373_58158374del	GRCh37
NC_000012.10:g.56444640_56444641del	NCBI36
NG_007076.1:g.7605_7606del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1045-39_1045-38del	ENSP00000518840.1:n.1045-39_1045-38del
ENST00000713545.1:c.1022-39_1022-38del	ENSP00000518841.1:n.1022-39_1022-38del
ENST00000228606.9:c.964-39_964-38del MANE Select	ENSP00000228606.4:n.964-39_964-38del
ENST00000228606.8:c.964-39_964-38del	ENSP00000228606.4:n.964-39_964-38del
ENST00000546567.5:c.259-39_259-38del	ENSP00000449472.1:n.259-39_259-38del
ENST00000547344.5:n.1103-39_1103-38del
ENST00000547451.1:n.928_929del
NM_000785.3:c.964-39_964-38del	NP_000776.1:n.964-39_964-38del
NM_000785.4:c.964-39_964-38del MANE Select	NP_000776.1:n.964-39_964-38del