Canonical Allele Identifier: CA605325516

Gene: CYP27B1

Linked Data

• dbSNP Id: rs1433394310
• gnomAD v2: 12-58159997-AGCGGACACT-A
• gnomAD v4: 12-57766214-AGCGGACACT-A
• MyVariant Identifiers: chr12:g.58159998_58160006del (hg19) ; chr12:g.57766215_57766223del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57766215_57766223del , CM000674.2:g.57766215_57766223del	GRCh38
NC_000012.11:g.58159998_58160006del , CM000674.1:g.58159998_58160006del	GRCh37
NC_000012.10:g.56446265_56446273del	NCBI36
NG_007076.1:g.5971_5979del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.108-26_108-18del
ENST00000713544.1:c.196-26_196-18del	ENSP00000518840.1:n.196-26_196-18del
ENST00000713545.1:c.196-26_196-18del	ENSP00000518841.1:n.196-26_196-18del
ENST00000228606.9:c.196-26_196-18del MANE Select	ENSP00000228606.4:n.196-26_196-18del
ENST00000228606.8:c.196-26_196-18del	ENSP00000228606.4:n.196-26_196-18del
ENST00000546496.1:n.24-26_24-18del
ENST00000546609.1:c.108-26_108-18del
ENST00000547344.5:n.250-26_250-18del
ENST00000552186.1:n.289_297del
NM_000785.3:c.196-26_196-18del	NP_000776.1:n.196-26_196-18del
NM_000785.4:c.196-26_196-18del MANE Select	NP_000776.1:n.196-26_196-18del