Canonical Allele Identifier: CA2749546720
Gene: CYP1B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075531_38075532insAGT , CM000664.2:g.38075531_38075532insAGT GRCh38
NC_000002.11:g.38302674_38302675insAGT , CM000664.1:g.38302674_38302675insAGT GRCh37
NC_000002.10:g.38156178_38156179insAGT NCBI36
NG_008386.2:g.5570_5571insACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.-1-143_-1-142insACT ENSP00000478839.2:n.-1-143_-1-142insACT
ENST00000610745.5:c.-1-143_-1-142insACT MANE Select ENSP00000478561.1:n.-1-143_-1-142insACT
ENST00000490576.1:c.-1-143_-1-142insACT ENSP00000478839.1:n.-1-143_-1-142insACT
ENST00000494864.1:c.-70-4222_-70-4221insACT ENSP00000479876.1:n.-70-4222_-70-4221insACT
ENST00000610745.4:c.-1-143_-1-142insACT ENSP00000478561.1:n.-1-143_-1-142insACT
ENST00000613082.1:n.375+248_375+249insACT
ENST00000614273.1:c.-1-143_-1-142insACT ENSP00000483678.1:n.-1-143_-1-142insACT
NM_000104.3:c.-1-143_-1-142insACT NP_000095.2:n.-1-143_-1-142insACT
XM_011533236.1:c.145_146insAGT XP_011531538.1:p.Arg49delinsGlnCys
NM_000104.4:c.-1-143_-1-142insACT MANE Select NP_000095.2:n.-1-143_-1-142insACT