Canonical Allele Identifier: CA2038991033

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57766199_57766200delinsTG , CM000674.2:g.57766199_57766200delinsTG	GRCh38
NC_000012.11:g.58159982_58159983delinsTG , CM000674.1:g.58159982_58159983delinsTG	GRCh37
NC_000012.10:g.56446249_56446250delinsTG	NCBI36
NG_007076.1:g.5994_5995delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.108-3_108-2delinsCA
ENST00000713544.1:c.196-3_196-2delinsCA	ENSP00000518840.1:n.196-3_196-2delinsCA
ENST00000713545.1:c.196-3_196-2delinsCA	ENSP00000518841.1:n.196-3_196-2delinsCA
ENST00000228606.9:c.196-3_196-2delinsCA MANE Select	ENSP00000228606.4:n.196-3_196-2delinsCA
ENST00000228606.8:c.196-3_196-2delinsCA	ENSP00000228606.4:n.196-3_196-2delinsCA
ENST00000546496.1:n.24-3_24-2delinsCA
ENST00000546609.1:c.108-3_108-2delinsCA
ENST00000547344.5:n.250-3_250-2delinsCA
ENST00000552186.1:n.312_313delinsCA
NM_000785.3:c.196-3_196-2delinsCA	NP_000776.1:n.196-3_196-2delinsCA
NM_000785.4:c.196-3_196-2delinsCA MANE Select	NP_000776.1:n.196-3_196-2delinsCA