Canonical Allele Identifier: CA2560841053

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57763815_57763816del , CM000674.2:g.57763815_57763816del	GRCh38
NC_000012.11:g.58157598_58157599del , CM000674.1:g.58157598_58157599del	GRCh37
NC_000012.10:g.56443865_56443866del	NCBI36
NG_007076.1:g.8378_8379del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1297-8_1297-7del	ENSP00000518840.1:n.1297-8_1297-7del
ENST00000713545.1:c.*221-8_*221-7del	ENSP00000518841.1:n.*221-8_*221-7del
ENST00000228606.9:c.1216-8_1216-7del MANE Select	ENSP00000228606.4:n.1216-8_1216-7del
ENST00000228606.8:c.1216-8_1216-7del	ENSP00000228606.4:n.1216-8_1216-7del
ENST00000547344.5:n.1355-8_1355-7del
NM_000785.3:c.1216-8_1216-7del	NP_000776.1:n.1216-8_1216-7del
NM_000785.4:c.1216-8_1216-7del MANE Select	NP_000776.1:n.1216-8_1216-7del