Canonical Allele Identifier: CA2038988620

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765061_57765073delinsGGCACAAGGTGGC , CM000674.2:g.57765061_57765073delinsGGCACAAGGTGGC	GRCh38
NC_000012.11:g.58158844_58158856delinsGGCACAAGGTGGC , CM000674.1:g.58158844_58158856delinsGGCACAAGGTGGC	GRCh37
NC_000012.10:g.56445111_56445123delinsGGCACAAGGTGGC	NCBI36
NG_007076.1:g.7121_7133delinsGCCACCTTGTGCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000546609.2:n.640_652delinsGCCACCTTGTGCC
ENST00000713544.1:c.809_821delinsGCCACCTTGTGCC	ENSP00000518840.1:p.Arg270=
ENST00000713545.1:c.786_798delinsGCCACCTTGTGCC	ENSP00000518841.1:p.Ala262=
ENST00000228606.9:c.728_740delinsGCCACCTTGTGCC MANE Select	ENSP00000228606.4:p.Arg243=
ENST00000228606.8:c.728_740delinsGCCACCTTGTGCC	ENSP00000228606.4:p.Arg243=
ENST00000546567.5:c.23_35delinsGCCACCTTGTGCC	ENSP00000449472.1:p.Arg8=
ENST00000546609.1:c.640_652delinsGCCACCTTGTGCC
ENST00000547344.5:n.867_879delinsGCCACCTTGTGCC
ENST00000547451.1:n.528_540delinsGCCACCTTGTGCC
NM_000785.3:c.728_740delinsGCCACCTTGTGCC	NP_000776.1:p.Arg243=
NM_000785.4:c.728_740delinsGCCACCTTGTGCC MANE Select	NP_000776.1:p.Arg243=