Canonical Allele Identifier: CA2619517160

Gene: CYP27B1

Linked Data

• gnomAD v4: 12-57765277-AGCTCTGTCCTGGGACTCACCTTCCAGTCCGAACTTGTAAAATTCCCCCGCCACGTCCCGAACCAGGGCGGGCG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765280_57765352del , CM000674.2:g.57765280_57765352del	GRCh38
NC_000012.11:g.58159063_58159135del , CM000674.1:g.58159063_58159135del	GRCh37
NC_000012.10:g.56445330_56445402del	NCBI36
NG_007076.1:g.6844_6916del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.448_501+19del
ENST00000713544.1:c.617_670+19del
ENST00000713545.1:c.594_647+19del
ENST00000228606.9:c.536_589+19del
ENST00000228606.8:c.536_589+19del
ENST00000546567.5:c.-170_-117+19del
ENST00000546609.1:c.448_501+19del
ENST00000547344.5:n.590_662del
ENST00000547451.1:n.336_389+19del
NM_000785.3:c.536_589+19del
NM_000785.4:c.536_589+19del