Canonical Allele Identifier: CA2619516110

Gene: CYP27B1

Linked Data

• gnomAD v4: 12-57764559-CAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57764560_57764561del , CM000674.2:g.57764560_57764561del	GRCh38
NC_000012.11:g.58158343_58158344del , CM000674.1:g.58158343_58158344del	GRCh37
NC_000012.10:g.56444610_56444611del	NCBI36
NG_007076.1:g.7633_7634del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1045-11_1045-10del	ENSP00000518840.1:n.1045-11_1045-10del
ENST00000713545.1:c.1022-11_1022-10del	ENSP00000518841.1:n.1022-11_1022-10del
ENST00000228606.9:c.964-11_964-10del MANE Select	ENSP00000228606.4:n.964-11_964-10del
ENST00000228606.8:c.964-11_964-10del	ENSP00000228606.4:n.964-11_964-10del
ENST00000546567.5:c.259-11_259-10del	ENSP00000449472.1:n.259-11_259-10del
ENST00000547344.5:n.1103-11_1103-10del
ENST00000547451.1:n.956_957del
NM_000785.3:c.964-11_964-10del	NP_000776.1:n.964-11_964-10del
NM_000785.4:c.964-11_964-10del MANE Select	NP_000776.1:n.964-11_964-10del