Canonical Allele Identifier: CA690329452

Gene: CYP27B1

Linked Data

• dbSNP Id: rs1381789008
• gnomAD v3: 12-57764024-GTGTT-G
• gnomAD v4: 12-57764024-GTGTT-G
• MyVariant Identifiers: chr12:g.58157808_58157811del (hg19) ; chr12:g.57764025_57764028del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57764027_57764030del , CM000674.2:g.57764027_57764030del	GRCh38
NC_000012.11:g.58157810_58157813del , CM000674.1:g.58157810_58157813del	GRCh37
NC_000012.10:g.56444077_56444080del	NCBI36
NG_007076.1:g.8166_8169del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1296+70_1296+73del	ENSP00000518840.1:n.1296+70_1296+73del
ENST00000713545.1:c.*220+70_*220+73del	ENSP00000518841.1:n.*220+70_*220+73del
ENST00000228606.9:c.1215+70_1215+73del MANE Select	ENSP00000228606.4:n.1215+70_1215+73del
ENST00000228606.8:c.1215+70_1215+73del	ENSP00000228606.4:n.1215+70_1215+73del
ENST00000547344.5:n.1354+70_1354+73del
NM_000785.3:c.1215+70_1215+73del	NP_000776.1:n.1215+70_1215+73del
NM_000785.4:c.1215+70_1215+73del MANE Select	NP_000776.1:n.1215+70_1215+73del