Canonical Allele Identifier: CA2749545428
Gene: CYP1B1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075499_38075501del , CM000664.2:g.38075499_38075501del GRCh38
NC_000002.11:g.38302642_38302644del , CM000664.1:g.38302642_38302644del GRCh37
NC_000002.10:g.38156146_38156148del NCBI36
NG_008386.2:g.5601_5603del

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.-1-112_-1-110del ENSP00000478839.2:n.-1-112_-1-110del
ENST00000610745.5:c.-1-112_-1-110del MANE Select ENSP00000478561.1:n.-1-112_-1-110del
ENST00000490576.1:c.-1-112_-1-110del ENSP00000478839.1:n.-1-112_-1-110del
ENST00000494864.1:c.-70-4191_-70-4189del ENSP00000479876.1:n.-70-4191_-70-4189del
ENST00000610745.4:c.-1-112_-1-110del ENSP00000478561.1:n.-1-112_-1-110del
ENST00000613082.1:n.375+279_375+281del
ENST00000614273.1:c.-1-112_-1-110del ENSP00000483678.1:n.-1-112_-1-110del
NM_000104.3:c.-1-112_-1-110del NP_000095.2:n.-1-112_-1-110del
XM_011533236.1:c.113_115del XP_011531538.1:p.Ser38Ter
NM_000104.4:c.-1-112_-1-110del MANE Select NP_000095.2:n.-1-112_-1-110del
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