Canonical Allele Identifier: CA2619516146

Gene: CYP27B1

Linked Data

• gnomAD v4: 12-57764598-CAGAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57764599_57764602del , CM000674.2:g.57764599_57764602del	GRCh38
NC_000012.11:g.58158382_58158385del , CM000674.1:g.58158382_58158385del	GRCh37
NC_000012.10:g.56444649_56444652del	NCBI36
NG_007076.1:g.7592_7595del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1045-52_1045-49del	ENSP00000518840.1:n.1045-52_1045-49del
ENST00000713545.1:c.1022-52_1022-49del	ENSP00000518841.1:n.1022-52_1022-49del
ENST00000228606.9:c.964-52_964-49del MANE Select	ENSP00000228606.4:n.964-52_964-49del
ENST00000228606.8:c.964-52_964-49del	ENSP00000228606.4:n.964-52_964-49del
ENST00000546567.5:c.259-52_259-49del	ENSP00000449472.1:n.259-52_259-49del
ENST00000547344.5:n.1103-52_1103-49del
ENST00000547451.1:n.915_918del
NM_000785.3:c.964-52_964-49del	NP_000776.1:n.964-52_964-49del
NM_000785.4:c.964-52_964-49del MANE Select	NP_000776.1:n.964-52_964-49del