Canonical Allele Identifier: CA2749545436
Gene: CYP1B1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075504_38075508del , CM000664.2:g.38075504_38075508del GRCh38
NC_000002.11:g.38302647_38302651del , CM000664.1:g.38302647_38302651del GRCh37
NC_000002.10:g.38156151_38156155del NCBI36
NG_008386.2:g.5594_5598del

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.-1-119_-1-115del ENSP00000478839.2:n.-1-119_-1-115del
ENST00000610745.5:c.-1-119_-1-115del MANE Select ENSP00000478561.1:n.-1-119_-1-115del
ENST00000490576.1:c.-1-119_-1-115del ENSP00000478839.1:n.-1-119_-1-115del
ENST00000494864.1:c.-70-4198_-70-4194del ENSP00000479876.1:n.-70-4198_-70-4194del
ENST00000610745.4:c.-1-119_-1-115del ENSP00000478561.1:n.-1-119_-1-115del
ENST00000613082.1:n.375+272_375+276del
ENST00000614273.1:c.-1-119_-1-115del ENSP00000483678.1:n.-1-119_-1-115del
NM_000104.3:c.-1-119_-1-115del NP_000095.2:n.-1-119_-1-115del
XM_011533236.1:c.118_122del XP_011531538.1:p.Leu40SerfsTer30
NM_000104.4:c.-1-119_-1-115del MANE Select NP_000095.2:n.-1-119_-1-115del
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