Canonical Allele Identifier: CA2575206532

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57764017del , CM000674.2:g.57764017del	GRCh38
NC_000012.11:g.58157800del , CM000674.1:g.58157800del	GRCh37
NC_000012.10:g.56444067del	NCBI36
NG_007076.1:g.8180del

Transcript Alleles

HGVS	Amino-acid change
ENST00000713544.1:c.1296+84del	ENSP00000518840.1:n.1296+84del
ENST00000713545.1:c.*220+84del	ENSP00000518841.1:n.*220+84del
ENST00000228606.9:c.1215+84del MANE Select	ENSP00000228606.4:n.1215+84del
ENST00000228606.8:c.1215+84del	ENSP00000228606.4:n.1215+84del
ENST00000547344.5:n.1354+84del
NM_000785.3:c.1215+84del	NP_000776.1:n.1215+84del
NM_000785.4:c.1215+84del MANE Select	NP_000776.1:n.1215+84del