Canonical Allele Identifier: CA2749545427
Gene: CYP1B1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075498_38075499insAGTG , CM000664.2:g.38075498_38075499insAGTG GRCh38
NC_000002.11:g.38302641_38302642insAGTG , CM000664.1:g.38302641_38302642insAGTG GRCh37
NC_000002.10:g.38156145_38156146insAGTG NCBI36
NG_008386.2:g.5603_5604insCACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.-1-110_-1-109insCACT ENSP00000478839.2:n.-1-110_-1-109insCACT
ENST00000610745.5:c.-1-110_-1-109insCACT MANE Select ENSP00000478561.1:n.-1-110_-1-109insCACT
ENST00000490576.1:c.-1-110_-1-109insCACT ENSP00000478839.1:n.-1-110_-1-109insCACT
ENST00000494864.1:c.-70-4189_-70-4188insCACT ENSP00000479876.1:n.-70-4189_-70-4188insCACT
ENST00000610745.4:c.-1-110_-1-109insCACT ENSP00000478561.1:n.-1-110_-1-109insCACT
ENST00000613082.1:n.375+281_375+282insCACT
ENST00000614273.1:c.-1-110_-1-109insCACT ENSP00000483678.1:n.-1-110_-1-109insCACT
NM_000104.3:c.-1-110_-1-109insCACT NP_000095.2:n.-1-110_-1-109insCACT
XM_011533236.1:c.112_113insAGTG XP_011531538.1:p.Ser38Ter
NM_000104.4:c.-1-110_-1-109insCACT MANE Select NP_000095.2:n.-1-110_-1-109insCACT
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