Canonical Allele Identifier: CA2695216950

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57763716del , CM000674.2:g.57763716del	GRCh38
NC_000012.11:g.58157499del , CM000674.1:g.58157499del	GRCh37
NC_000012.10:g.56443766del	NCBI36
NG_007076.1:g.8480del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1391del	ENSP00000518840.1:p.Gly464ValfsTer?
ENST00000713545.1:c.*315del	ENSP00000518841.1:n.*315del
ENST00000228606.9:c.1310del MANE Select	ENSP00000228606.4:p.Gly437ValfsTer?
ENST00000228606.8:c.1310del	ENSP00000228606.4:p.Gly437ValfsTer?
ENST00000547344.5:n.1449del
NM_000785.3:c.1310del	NP_000776.1:p.Gly437ValfsTer?
NM_000785.4:c.1310del MANE Select	NP_000776.1:p.Gly437ValfsTer?