Canonical Allele Identifier: CA2575206560

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57764315_57764316del , CM000674.2:g.57764315_57764316del	GRCh38
NC_000012.11:g.58158098_58158099del , CM000674.1:g.58158098_58158099del	GRCh37
NC_000012.10:g.56444365_56444366del	NCBI36
NG_007076.1:g.7879_7880del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1217+63_1217+64del	ENSP00000518840.1:n.1217+63_1217+64del
ENST00000713545.1:c.*141+63_*141+64del	ENSP00000518841.1:n.*141+63_*141+64del
ENST00000228606.9:c.1136+63_1136+64del MANE Select	ENSP00000228606.4:n.1136+63_1136+64del
ENST00000228606.8:c.1136+63_1136+64del	ENSP00000228606.4:n.1136+63_1136+64del
ENST00000546567.5:c.431+63_431+64del	ENSP00000449472.1:n.431+63_431+64del
ENST00000547344.5:n.1275+63_1275+64del
NM_000785.3:c.1136+63_1136+64del	NP_000776.1:n.1136+63_1136+64del
NM_000785.4:c.1136+63_1136+64del MANE Select	NP_000776.1:n.1136+63_1136+64del