Canonical Allele Identifier: CA2749546755
Gene: CYP1B1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075577_38075578insA , CM000664.2:g.38075577_38075578insA GRCh38
NC_000002.11:g.38302720_38302721insA , CM000664.1:g.38302720_38302721insA GRCh37
NC_000002.10:g.38156224_38156225insA NCBI36
NG_008386.2:g.5524_5525insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.-1-189_-1-188insT ENSP00000478839.2:n.-1-189_-1-188insT
ENST00000610745.5:c.-1-189_-1-188insT MANE Select ENSP00000478561.1:n.-1-189_-1-188insT
ENST00000490576.1:c.-1-189_-1-188insT ENSP00000478839.1:n.-1-189_-1-188insT
ENST00000494864.1:c.-70-4268_-70-4267insT ENSP00000479876.1:n.-70-4268_-70-4267insT
ENST00000610745.4:c.-1-189_-1-188insT ENSP00000478561.1:n.-1-189_-1-188insT
ENST00000613082.1:n.375+202_375+203insT
ENST00000614273.1:c.-1-189_-1-188insT ENSP00000483678.1:n.-1-189_-1-188insT
NM_000104.3:c.-1-189_-1-188insT NP_000095.2:n.-1-189_-1-188insT
XM_011533236.1:c.191_192insA XP_011531538.1:p.Val65ArgfsTer7
NM_000104.4:c.-1-189_-1-188insT MANE Select NP_000095.2:n.-1-189_-1-188insT
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