Canonical Allele Identifier: CA2749546722
Gene: CYP1B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075537_38075552del , CM000664.2:g.38075537_38075552del GRCh38
NC_000002.11:g.38302680_38302695del , CM000664.1:g.38302680_38302695del GRCh37
NC_000002.10:g.38156184_38156199del NCBI36
NG_008386.2:g.5553_5568del

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.-1-160_-1-145del ENSP00000478839.2:n.-1-160_-1-145del
ENST00000610745.5:c.-1-160_-1-145del MANE Select ENSP00000478561.1:n.-1-160_-1-145del
ENST00000490576.1:c.-1-160_-1-145del ENSP00000478839.1:n.-1-160_-1-145del
ENST00000494864.1:c.-70-4239_-70-4224del ENSP00000479876.1:n.-70-4239_-70-4224del
ENST00000610745.4:c.-1-160_-1-145del ENSP00000478561.1:n.-1-160_-1-145del
ENST00000613082.1:n.375+231_375+246del
ENST00000614273.1:c.-1-160_-1-145del ENSP00000483678.1:n.-1-160_-1-145del
NM_000104.3:c.-1-160_-1-145del NP_000095.2:n.-1-160_-1-145del
XM_011533236.1:c.151_166del XP_011531538.1:p.Phe51ThrfsTer?
NM_000104.4:c.-1-160_-1-145del MANE Select NP_000095.2:n.-1-160_-1-145del