Canonical Allele Identifier: CA2586969145
Gene: CYP1B1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38074994del , CM000664.2:g.38074994del GRCh38
NC_000002.11:g.38302137del , CM000664.1:g.38302137del GRCh37
NC_000002.10:g.38155641del NCBI36
NG_008386.2:g.6108del

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.395del ENSP00000478839.2:p.Met132ArgfsTer20
ENST00000610745.5:c.395del MANE Select ENSP00000478561.1:p.Met132ArgfsTer20
ENST00000490576.1:c.395del ENSP00000478839.1:p.Met132ArgfsTer?
ENST00000494864.1:c.-70-3684del ENSP00000479876.1:n.-70-3684del
ENST00000610745.4:c.395del ENSP00000478561.1:p.Met132ArgfsTer20
ENST00000613082.1:n.376-586del
ENST00000614273.1:c.395del ENSP00000483678.1:p.Met132ArgfsTer20
NM_000104.3:c.395del NP_000095.2:p.Met132ArgfsTer20
NM_000104.4:c.395del MANE Select NP_000095.2:p.Met132ArgfsTer20
Search 100 bp 5'
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