Canonical Allele Identifier: CA2038987335

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57764356_57764357delinsTC , CM000674.2:g.57764356_57764357delinsTC	GRCh38
NC_000012.11:g.58158139_58158140delinsTC , CM000674.1:g.58158139_58158140delinsTC	GRCh37
NC_000012.10:g.56444406_56444407delinsTC	NCBI36
NG_007076.1:g.7837_7838delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1217+21_1217+22delinsGA	ENSP00000518840.1:n.1217+21_1217+22delinsGA
ENST00000713545.1:c.*141+21_*141+22delinsGA	ENSP00000518841.1:n.*141+21_*141+22delinsGA
ENST00000228606.9:c.1136+21_1136+22delinsGA MANE Select	ENSP00000228606.4:n.1136+21_1136+22delinsGA
ENST00000228606.8:c.1136+21_1136+22delinsGA	ENSP00000228606.4:n.1136+21_1136+22delinsGA
ENST00000546567.5:c.431+21_431+22delinsGA	ENSP00000449472.1:n.431+21_431+22delinsGA
ENST00000547344.5:n.1275+21_1275+22delinsGA
NM_000785.3:c.1136+21_1136+22delinsGA	NP_000776.1:n.1136+21_1136+22delinsGA
NM_000785.4:c.1136+21_1136+22delinsGA MANE Select	NP_000776.1:n.1136+21_1136+22delinsGA