Canonical Allele Identifier: CA2038988737

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765107_57765108delinsTG , CM000674.2:g.57765107_57765108delinsTG	GRCh38
NC_000012.11:g.58158890_58158891delinsTG , CM000674.1:g.58158890_58158891delinsTG	GRCh37
NC_000012.10:g.56445157_56445158delinsTG	NCBI36
NG_007076.1:g.7086_7087delinsCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000546609.2:n.605_606delinsCA
ENST00000713544.1:c.774_775delinsCA	ENSP00000518840.1:p.Ser258=
ENST00000713545.1:c.751_752delinsCA	ENSP00000518841.1:p.His251=
ENST00000228606.9:c.693_694delinsCA MANE Select	ENSP00000228606.4:p.Ser231=
ENST00000228606.8:c.693_694delinsCA	ENSP00000228606.4:p.Ser231=
ENST00000546567.5:c.-13_-12delinsCA	ENSP00000449472.1:n.-13_-12delinsCA
ENST00000546609.1:c.605_606delinsCA
ENST00000547344.5:n.832_833delinsCA
ENST00000547451.1:n.493_494delinsCA
NM_000785.3:c.693_694delinsCA	NP_000776.1:p.Ser231=
NM_000785.4:c.693_694delinsCA MANE Select	NP_000776.1:p.Ser231=