Canonical Allele Identifier: CA2038988847

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765142_57765152delinsGTCTCCGTGTC , CM000674.2:g.57765142_57765152delinsGTCTCCGTGTC	GRCh38
NC_000012.11:g.58158925_58158935delinsGTCTCCGTGTC , CM000674.1:g.58158925_58158935delinsGTCTCCGTGTC	GRCh37
NC_000012.10:g.56445192_56445202delinsGTCTCCGTGTC	NCBI36
NG_007076.1:g.7042_7052delinsGACACGGAGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.561_571delinsGACACGGAGAC
ENST00000713544.1:c.730_740delinsGACACGGAGAC	ENSP00000518840.1:p.Asp244=
ENST00000713545.1:c.707_717delinsGACACGGAGAC	ENSP00000518841.1:p.Arg236=
ENST00000228606.9:c.649_659delinsGACACGGAGAC MANE Select	ENSP00000228606.4:p.Asp217=
ENST00000228606.8:c.649_659delinsGACACGGAGAC	ENSP00000228606.4:p.Asp217=
ENST00000546567.5:c.-57_-47delinsGACACGGAGAC	ENSP00000449472.1:n.-57_-47delinsGACACGGAGAC
ENST00000546609.1:c.561_571delinsGACACGGAGAC
ENST00000547344.5:n.788_798delinsGACACGGAGAC
ENST00000547451.1:n.449_459delinsGACACGGAGAC
NM_000785.3:c.649_659delinsGACACGGAGAC	NP_000776.1:p.Asp217=
NM_000785.4:c.649_659delinsGACACGGAGAC MANE Select	NP_000776.1:p.Asp217=