Canonical Allele Identifier: CA2749545445
Gene: CYP1B1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075510_38075512del , CM000664.2:g.38075510_38075512del GRCh38
NC_000002.11:g.38302653_38302655del , CM000664.1:g.38302653_38302655del GRCh37
NC_000002.10:g.38156157_38156159del NCBI36
NG_008386.2:g.5590_5592del

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.-1-123_-1-121del ENSP00000478839.2:n.-1-123_-1-121del
ENST00000610745.5:c.-1-123_-1-121del MANE Select ENSP00000478561.1:n.-1-123_-1-121del
ENST00000490576.1:c.-1-123_-1-121del ENSP00000478839.1:n.-1-123_-1-121del
ENST00000494864.1:c.-70-4202_-70-4200del ENSP00000479876.1:n.-70-4202_-70-4200del
ENST00000610745.4:c.-1-123_-1-121del ENSP00000478561.1:n.-1-123_-1-121del
ENST00000613082.1:n.375+268_375+270del
ENST00000614273.1:c.-1-123_-1-121del ENSP00000483678.1:n.-1-123_-1-121del
NM_000104.3:c.-1-123_-1-121del NP_000095.2:n.-1-123_-1-121del
XM_011533236.1:c.124_126del XP_011531538.1:p.Leu42del
NM_000104.4:c.-1-123_-1-121del MANE Select NP_000095.2:n.-1-123_-1-121del
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