Canonical Allele Identifier: CA2575206571

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57764588del , CM000674.2:g.57764588del	GRCh38
NC_000012.11:g.58158371del , CM000674.1:g.58158371del	GRCh37
NC_000012.10:g.56444638del	NCBI36
NG_007076.1:g.7606del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1045-38del	ENSP00000518840.1:n.1045-38del
ENST00000713545.1:c.1022-38del	ENSP00000518841.1:n.1022-38del
ENST00000228606.9:c.964-38del MANE Select	ENSP00000228606.4:n.964-38del
ENST00000228606.8:c.964-38del	ENSP00000228606.4:n.964-38del
ENST00000546567.5:c.259-38del	ENSP00000449472.1:n.259-38del
ENST00000547344.5:n.1103-38del
ENST00000547451.1:n.929del
NM_000785.3:c.964-38del	NP_000776.1:n.964-38del
NM_000785.4:c.964-38del MANE Select	NP_000776.1:n.964-38del