Canonical Allele Identifier: CA2038987849

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57764633_57764639delinsAGGGTGC , CM000674.2:g.57764633_57764639delinsAGGGTGC	GRCh38
NC_000012.11:g.58158416_58158422delinsAGGGTGC , CM000674.1:g.58158416_58158422delinsAGGGTGC	GRCh37
NC_000012.10:g.56444683_56444689delinsAGGGTGC	NCBI36
NG_007076.1:g.7555_7561delinsGCACCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1045-89_1045-83delinsGCACCCT	ENSP00000518840.1:n.1045-89_1045-83delinsGCACCCT
ENST00000713545.1:c.1022-89_1022-83delinsGCACCCT	ENSP00000518841.1:n.1022-89_1022-83delinsGCACCCT
ENST00000228606.9:c.964-89_964-83delinsGCACCCT MANE Select	ENSP00000228606.4:n.964-89_964-83delinsGCACCCT
ENST00000228606.8:c.964-89_964-83delinsGCACCCT	ENSP00000228606.4:n.964-89_964-83delinsGCACCCT
ENST00000546567.5:c.259-89_259-83delinsGCACCCT	ENSP00000449472.1:n.259-89_259-83delinsGCACCCT
ENST00000547344.5:n.1103-89_1103-83delinsGCACCCT
ENST00000547451.1:n.878_884delinsGCACCCT
NM_000785.3:c.964-89_964-83delinsGCACCCT	NP_000776.1:n.964-89_964-83delinsGCACCCT
NM_000785.4:c.964-89_964-83delinsGCACCCT MANE Select	NP_000776.1:n.964-89_964-83delinsGCACCCT