Canonical Allele Identifier: CA2038987283

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57764291_57764294delinsTCTG , CM000674.2:g.57764291_57764294delinsTCTG	GRCh38
NC_000012.11:g.58158074_58158077delinsTCTG , CM000674.1:g.58158074_58158077delinsTCTG	GRCh37
NC_000012.10:g.56444341_56444344delinsTCTG	NCBI36
NG_007076.1:g.7900_7903delinsCAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1217+84_1217+87delinsCAGA	ENSP00000518840.1:n.1217+84_1217+87delinsCAGA
ENST00000713545.1:c.*141+84_*141+87delinsCAGA	ENSP00000518841.1:n.*141+84_*141+87delinsCAGA
ENST00000228606.9:c.1136+84_1136+87delinsCAGA MANE Select	ENSP00000228606.4:n.1136+84_1136+87delinsCAGA
ENST00000228606.8:c.1136+84_1136+87delinsCAGA	ENSP00000228606.4:n.1136+84_1136+87delinsCAGA
ENST00000546567.5:c.431+84_431+87delinsCAGA	ENSP00000449472.1:n.431+84_431+87delinsCAGA
ENST00000547344.5:n.1275+84_1275+87delinsCAGA
NM_000785.3:c.1136+84_1136+87delinsCAGA	NP_000776.1:n.1136+84_1136+87delinsCAGA
NM_000785.4:c.1136+84_1136+87delinsCAGA MANE Select	NP_000776.1:n.1136+84_1136+87delinsCAGA