Canonical Allele Identifier: CA2619518129

Gene: CYP27B1

Linked Data

• gnomAD v4: 12-57765700-T-TCCCTCCTG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765700_57765701insCCCTCCTG , CM000674.2:g.57765700_57765701insCCCTCCTG	GRCh38
NC_000012.11:g.58159483_58159484insCCCTCCTG , CM000674.1:g.58159483_58159484insCCCTCCTG	GRCh37
NC_000012.10:g.56445750_56445751insCCCTCCTG	NCBI36
NG_007076.1:g.6493_6494insCAGGAGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.299-202_299-201insCAGGAGGG
ENST00000713544.1:c.387-121_387-120insCAGGAGGG	ENSP00000518840.1:n.387-121_387-120insCAGGAGGG
ENST00000713545.1:c.387-144_387-143insCAGGAGGG	ENSP00000518841.1:n.387-144_387-143insCAGGAGGG
ENST00000228606.9:c.387-202_387-201insCAGGAGGG MANE Select	ENSP00000228606.4:n.387-202_387-201insCAGGAGGG
ENST00000228606.8:c.387-202_387-201insCAGGAGGG	ENSP00000228606.4:n.387-202_387-201insCAGGAGGG
ENST00000546496.1:n.215-202_215-201insCAGGAGGG
ENST00000546609.1:c.299-202_299-201insCAGGAGGG
ENST00000547344.5:n.441-202_441-201insCAGGAGGG
ENST00000552186.1:n.506-202_506-201insCAGGAGGG
NM_000785.3:c.387-202_387-201insCAGGAGGG	NP_000776.1:n.387-202_387-201insCAGGAGGG
NM_000785.4:c.387-202_387-201insCAGGAGGG MANE Select	NP_000776.1:n.387-202_387-201insCAGGAGGG