Canonical Allele Identifier: CA605706828

Gene: CYP27B1

Linked Data

• dbSNP Id: rs1306066387
• gnomAD v2: 12-58158432-CT-C
• gnomAD v3: 12-57764649-CT-C
• gnomAD v4: 12-57764649-CT-C
• MyVariant Identifiers: chr12:g.58158433del (hg19) ; chr12:g.57764650del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57764650del , CM000674.2:g.57764650del	GRCh38
NC_000012.11:g.58158433del , CM000674.1:g.58158433del	GRCh37
NC_000012.10:g.56444700del	NCBI36
NG_007076.1:g.7544del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1045-100del	ENSP00000518840.1:n.1045-100del
ENST00000713545.1:c.1022-100del	ENSP00000518841.1:n.1022-100del
ENST00000228606.9:c.964-100del MANE Select	ENSP00000228606.4:n.964-100del
ENST00000228606.8:c.964-100del	ENSP00000228606.4:n.964-100del
ENST00000546567.5:c.259-100del	ENSP00000449472.1:n.259-100del
ENST00000547344.5:n.1103-100del
ENST00000547451.1:n.867del
NM_000785.3:c.964-100del	NP_000776.1:n.964-100del
NM_000785.4:c.964-100del MANE Select	NP_000776.1:n.964-100del