Canonical Allele Identifier: CA2038991102

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57766232_57766233delinsTG , CM000674.2:g.57766232_57766233delinsTG	GRCh38
NC_000012.11:g.58160015_58160016delinsTG , CM000674.1:g.58160015_58160016delinsTG	GRCh37
NC_000012.10:g.56446282_56446283delinsTG	NCBI36
NG_007076.1:g.5961_5962delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.108-36_108-35delinsCA
ENST00000713544.1:c.196-36_196-35delinsCA	ENSP00000518840.1:n.196-36_196-35delinsCA
ENST00000713545.1:c.196-36_196-35delinsCA	ENSP00000518841.1:n.196-36_196-35delinsCA
ENST00000228606.9:c.196-36_196-35delinsCA MANE Select	ENSP00000228606.4:n.196-36_196-35delinsCA
ENST00000228606.8:c.196-36_196-35delinsCA	ENSP00000228606.4:n.196-36_196-35delinsCA
ENST00000546496.1:n.24-36_24-35delinsCA
ENST00000546609.1:c.108-36_108-35delinsCA
ENST00000547344.5:n.250-36_250-35delinsCA
ENST00000552186.1:n.279_280delinsCA
NM_000785.3:c.196-36_196-35delinsCA	NP_000776.1:n.196-36_196-35delinsCA
NM_000785.4:c.196-36_196-35delinsCA MANE Select	NP_000776.1:n.196-36_196-35delinsCA