Canonical Allele Identifier: CA2038990888

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57766122_57766128delinsGGGCAGC , CM000674.2:g.57766122_57766128delinsGGGCAGC	GRCh38
NC_000012.11:g.58159905_58159911delinsGGGCAGC , CM000674.1:g.58159905_58159911delinsGGGCAGC	GRCh37
NC_000012.10:g.56446172_56446178delinsGGGCAGC	NCBI36
NG_007076.1:g.6066_6072delinsGCTGCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.177_183delinsGCTGCCC
ENST00000713544.1:c.265_271delinsGCTGCCC	ENSP00000518840.1:p.Ala89=
ENST00000713545.1:c.265_271delinsGCTGCCC	ENSP00000518841.1:p.Ala89=
ENST00000228606.9:c.265_271delinsGCTGCCC MANE Select	ENSP00000228606.4:p.Ala89=
ENST00000228606.8:c.265_271delinsGCTGCCC	ENSP00000228606.4:p.Ala89=
ENST00000546496.1:n.93_99delinsGCTGCCC
ENST00000546609.1:c.177_183delinsGCTGCCC
ENST00000547344.5:n.319_325delinsGCTGCCC
ENST00000552186.1:n.384_390delinsGCTGCCC
NM_000785.3:c.265_271delinsGCTGCCC	NP_000776.1:p.Ala89=
NM_000785.4:c.265_271delinsGCTGCCC MANE Select	NP_000776.1:p.Ala89=