Canonical Allele Identifier: CA2619518183

Gene: CYP27B1

Linked Data

• gnomAD v4: 12-57765705-G-GCAGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765705_57765706insCAGCA , CM000674.2:g.57765705_57765706insCAGCA	GRCh38
NC_000012.11:g.58159488_58159489insCAGCA , CM000674.1:g.58159488_58159489insCAGCA	GRCh37
NC_000012.10:g.56445755_56445756insCAGCA	NCBI36
NG_007076.1:g.6488_6489insTGCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.299-207_299-206insTGCTG
ENST00000713544.1:c.387-126_387-125insTGCTG	ENSP00000518840.1:n.387-126_387-125insTGCTG
ENST00000713545.1:c.387-149_387-148insTGCTG	ENSP00000518841.1:n.387-149_387-148insTGCTG
ENST00000228606.9:c.387-207_387-206insTGCTG MANE Select	ENSP00000228606.4:n.387-207_387-206insTGCTG
ENST00000228606.8:c.387-207_387-206insTGCTG	ENSP00000228606.4:n.387-207_387-206insTGCTG
ENST00000546496.1:n.215-207_215-206insTGCTG
ENST00000546609.1:c.299-207_299-206insTGCTG
ENST00000547344.5:n.441-207_441-206insTGCTG
ENST00000552186.1:n.506-207_506-206insTGCTG
NM_000785.3:c.387-207_387-206insTGCTG	NP_000776.1:n.387-207_387-206insTGCTG
NM_000785.4:c.387-207_387-206insTGCTG MANE Select	NP_000776.1:n.387-207_387-206insTGCTG