Canonical Allele Identifier: CA690329704

Gene: CYP27B1

Linked Data

• dbSNP Id: rs1345683823
• gnomAD v3: 12-57764291-TCTG-T
• gnomAD v4: 12-57764291-TCTG-T
• MyVariant Identifiers: chr12:g.58158075_58158077del (hg19) ; chr12:g.57764292_57764294del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57764294_57764296del , CM000674.2:g.57764294_57764296del	GRCh38
NC_000012.11:g.58158077_58158079del , CM000674.1:g.58158077_58158079del	GRCh37
NC_000012.10:g.56444344_56444346del	NCBI36
NG_007076.1:g.7900_7902del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1217+84_1217+86del	ENSP00000518840.1:n.1217+84_1217+86del
ENST00000713545.1:c.*141+84_*141+86del	ENSP00000518841.1:n.*141+84_*141+86del
ENST00000228606.9:c.1136+84_1136+86del MANE Select	ENSP00000228606.4:n.1136+84_1136+86del
ENST00000228606.8:c.1136+84_1136+86del	ENSP00000228606.4:n.1136+84_1136+86del
ENST00000546567.5:c.431+84_431+86del	ENSP00000449472.1:n.431+84_431+86del
ENST00000547344.5:n.1275+84_1275+86del
NM_000785.3:c.1136+84_1136+86del	NP_000776.1:n.1136+84_1136+86del
NM_000785.4:c.1136+84_1136+86del MANE Select	NP_000776.1:n.1136+84_1136+86del