Canonical Allele Identifier: CA2038987865

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57764649_57764650delinsCT , CM000674.2:g.57764649_57764650delinsCT	GRCh38
NC_000012.11:g.58158432_58158433delinsCT , CM000674.1:g.58158432_58158433delinsCT	GRCh37
NC_000012.10:g.56444699_56444700delinsCT	NCBI36
NG_007076.1:g.7544_7545delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1045-100_1045-99delinsAG	ENSP00000518840.1:n.1045-100_1045-99delinsAG
ENST00000713545.1:c.1022-100_1022-99delinsAG	ENSP00000518841.1:n.1022-100_1022-99delinsAG
ENST00000228606.9:c.964-100_964-99delinsAG MANE Select	ENSP00000228606.4:n.964-100_964-99delinsAG
ENST00000228606.8:c.964-100_964-99delinsAG	ENSP00000228606.4:n.964-100_964-99delinsAG
ENST00000546567.5:c.259-100_259-99delinsAG	ENSP00000449472.1:n.259-100_259-99delinsAG
ENST00000547344.5:n.1103-100_1103-99delinsAG
ENST00000547451.1:n.867_868delinsAG
NM_000785.3:c.964-100_964-99delinsAG	NP_000776.1:n.964-100_964-99delinsAG
NM_000785.4:c.964-100_964-99delinsAG MANE Select	NP_000776.1:n.964-100_964-99delinsAG