Canonical Allele Identifier: CA2749546721
Gene: CYP1B1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075531_38075532insAGTA , CM000664.2:g.38075531_38075532insAGTA GRCh38
NC_000002.11:g.38302674_38302675insAGTA , CM000664.1:g.38302674_38302675insAGTA GRCh37
NC_000002.10:g.38156178_38156179insAGTA NCBI36
NG_008386.2:g.5570_5571insTACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.-1-143_-1-142insTACT ENSP00000478839.2:n.-1-143_-1-142insTACT
ENST00000610745.5:c.-1-143_-1-142insTACT MANE Select ENSP00000478561.1:n.-1-143_-1-142insTACT
ENST00000490576.1:c.-1-143_-1-142insTACT ENSP00000478839.1:n.-1-143_-1-142insTACT
ENST00000494864.1:c.-70-4222_-70-4221insTACT ENSP00000479876.1:n.-70-4222_-70-4221insTACT
ENST00000610745.4:c.-1-143_-1-142insTACT ENSP00000478561.1:n.-1-143_-1-142insTACT
ENST00000613082.1:n.375+248_375+249insTACT
ENST00000614273.1:c.-1-143_-1-142insTACT ENSP00000483678.1:n.-1-143_-1-142insTACT
NM_000104.3:c.-1-143_-1-142insTACT NP_000095.2:n.-1-143_-1-142insTACT
XM_011533236.1:c.145_146insAGTA XP_011531538.1:p.Arg49GlnfsTer2
NM_000104.4:c.-1-143_-1-142insTACT MANE Select NP_000095.2:n.-1-143_-1-142insTACT
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