Canonical Allele Identifier: CA690330131

Gene: CYP27B1

Linked Data

• dbSNP Id: rs1233025016
• gnomAD v4: 12-57764633-AGGGTGC-A
• MyVariant Identifiers: chr12:g.58158417_58158422del (hg19) ; chr12:g.57764634_57764639del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57764634_57764639del , CM000674.2:g.57764634_57764639del	GRCh38
NC_000012.11:g.58158417_58158422del , CM000674.1:g.58158417_58158422del	GRCh37
NC_000012.10:g.56444684_56444689del	NCBI36
NG_007076.1:g.7555_7560del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1045-89_1045-84del	ENSP00000518840.1:n.1045-89_1045-84del
ENST00000713545.1:c.1022-89_1022-84del	ENSP00000518841.1:n.1022-89_1022-84del
ENST00000228606.9:c.964-89_964-84del MANE Select	ENSP00000228606.4:n.964-89_964-84del
ENST00000228606.8:c.964-89_964-84del	ENSP00000228606.4:n.964-89_964-84del
ENST00000546567.5:c.259-89_259-84del	ENSP00000449472.1:n.259-89_259-84del
ENST00000547344.5:n.1103-89_1103-84del
ENST00000547451.1:n.878_883del
NM_000785.3:c.964-89_964-84del	NP_000776.1:n.964-89_964-84del
NM_000785.4:c.964-89_964-84del MANE Select	NP_000776.1:n.964-89_964-84del