Canonical Allele Identifier: CA2039015218

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57763702_57763763delinsTGGGGGGTGGGACCCTCCCCCAGCCAGCGAGCTGGACGAAAAGAATTTGGCTCTGGGAACTG , CM000674.2:g.57763702_57763763delinsTGGGGGGTGGGACCCTCCCCCAGCCAGCGAGCTGGACGAAAAGAATTTGGCTCTGGGAACTG	GRCh38
NC_000012.11:g.58157485_58157546delinsTGGGGGGTGGGACCCTCCCCCAGCCAGCGAGCTGGACGAAAAGAATTTGGCTCTGGGAACTG , CM000674.1:g.58157485_58157546delinsTGGGGGGTGGGACCCTCCCCCAGCCAGCGAGCTGGACGAAAAGAATTTGGCTCTGGGAACTG	GRCh37
NC_000012.10:g.56443752_56443813delinsTGGGGGGTGGGACCCTCCCCCAGCCAGCGAGCTGGACGAAAAGAATTTGGCTCTGGGAACTG	NCBI36
NG_007076.1:g.8431_8492delinsCAGTTCCCAGAGCCAAATTCTTTTCGTCCAGCTCGCTGGCTGGGGGAGGGTCCCACCCCCCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000713544.1:c.1342_1403delinsCAGTTCCCAGAGCCAAATTCTTTTCGTCCAGCTCGCTGGCTGGGGGAGGGTCCCACCCCCCA	ENSP00000518840.1:p.Gln448=
ENST00000713545.1:c.*266_*327delinsCAGTTCCCAGAGCCAAATTCTTTTCGTCCAGCTCGCTGGCTGGGGGAGGGTCCCACCCCCCA	ENSP00000518841.1:n.*266_*327delinsCAGTTC...
ENST00000228606.9:c.1261_1322delinsCAGTTCCCAGAGCCAAATTCTTTTCGTCCAGCTCGCTGGCTGGGGGAGGGTCCCACCCCCCA MANE Select	ENSP00000228606.4:p.Gln421=
ENST00000228606.8:c.1261_1322delinsCAGTTCCCAGAGCCAAATTCTTTTCGTCCAGCTCGCTGGCTGGGGGAGGGTCCCACCCCCCA	ENSP00000228606.4:p.Gln421=
ENST00000547344.5:n.1400_1461delinsCAGTTCCCAGAGCCAAATTCTTTTCGTCCAGCTCGCTGGCTGGGGGAGGGTCCCACCCCCCA
NM_000785.3:c.1261_1322delinsCAGTTCCCAGAGCCAAATTCTTTTCGTCCAGCTCGCTGGCTGGGGGAGGGTCCCACCCCCCA	NP_000776.1:p.Gln421=
NM_000785.4:c.1261_1322delinsCAGTTCCCAGAGCCAAATTCTTTTCGTCCAGCTCGCTGGCTGGGGGAGGGTCCCACCCCCCA MANE Select	NP_000776.1:p.Gln421=