Canonical Allele Identifier: CA2749546718
Gene: CYP1B1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075526_38075527del , CM000664.2:g.38075526_38075527del GRCh38
NC_000002.11:g.38302669_38302670del , CM000664.1:g.38302669_38302670del GRCh37
NC_000002.10:g.38156173_38156174del NCBI36
NG_008386.2:g.5575_5576del

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.-1-138_-1-137del ENSP00000478839.2:n.-1-138_-1-137del
ENST00000610745.5:c.-1-138_-1-137del MANE Select ENSP00000478561.1:n.-1-138_-1-137del
ENST00000490576.1:c.-1-138_-1-137del ENSP00000478839.1:n.-1-138_-1-137del
ENST00000494864.1:c.-70-4217_-70-4216del ENSP00000479876.1:n.-70-4217_-70-4216del
ENST00000610745.4:c.-1-138_-1-137del ENSP00000478561.1:n.-1-138_-1-137del
ENST00000613082.1:n.375+253_375+254del
ENST00000614273.1:c.-1-138_-1-137del ENSP00000483678.1:n.-1-138_-1-137del
NM_000104.3:c.-1-138_-1-137del NP_000095.2:n.-1-138_-1-137del
XM_011533236.1:c.140_141del XP_011531538.1:p.Arg47GlnfsTer24
NM_000104.4:c.-1-138_-1-137del MANE Select NP_000095.2:n.-1-138_-1-137del
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