Canonical Allele Identifier: CA2749544714
Gene: CYP1B1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38071295_38071296del , CM000664.2:g.38071295_38071296del GRCh38
NC_000002.11:g.38298438_38298439del , CM000664.1:g.38298438_38298439del GRCh37
NC_000002.10:g.38151942_38151943del NCBI36
NG_008386.2:g.9807_9808del

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.1059_1060del ENSP00000478839.2:p.Gln353HisfsTer21
ENST00000610745.5:c.1059_1060del MANE Select ENSP00000478561.1:p.Gln353HisfsTer21
ENST00000492443.1:n.437_438del
ENST00000494864.1:c.-55_-54del ENSP00000479876.1:n.-55_-54del
ENST00000610745.4:c.1059_1060del ENSP00000478561.1:p.Gln353HisfsTer21
ENST00000613082.1:n.454_455del
ENST00000614273.1:c.1059_1060del ENSP00000483678.1:p.Gln353HisfsTer21
NM_000104.3:c.1059_1060del NP_000095.2:p.Gln353HisfsTer21
NM_000104.4:c.1059_1060del MANE Select NP_000095.2:p.Gln353HisfsTer21
Search 100 bp 5'
Search 100 bp 3'