Canonical Allele Identifier: CA2749546784
Gene: CYP1B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075624_38075625insAGT , CM000664.2:g.38075624_38075625insAGT GRCh38
NC_000002.11:g.38302767_38302768insAGT , CM000664.1:g.38302767_38302768insAGT GRCh37
NC_000002.10:g.38156271_38156272insAGT NCBI36
NG_008386.2:g.5477_5478insACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.-1-236_-1-235insACT ENSP00000478839.2:n.-1-236_-1-235insACT
ENST00000610745.5:c.-2+155_-2+156insACT MANE Select ENSP00000478561.1:n.-2+155_-2+156insACT
ENST00000490576.1:c.-1-236_-1-235insACT ENSP00000478839.1:n.-1-236_-1-235insACT
ENST00000494864.1:c.-70-4315_-70-4314insACT ENSP00000479876.1:n.-70-4315_-70-4314insACT
ENST00000610745.4:c.-2+155_-2+156insACT ENSP00000478561.1:n.-2+155_-2+156insACT
ENST00000613082.1:n.375+155_375+156insACT
ENST00000614273.1:c.-2+151_-2+152insACT ENSP00000483678.1:n.-2+151_-2+152insACT
NM_000104.3:c.-2+155_-2+156insACT NP_000095.2:n.-2+155_-2+156insACT
XM_011533236.1:c.238_239insAGT XP_011531538.1:p.Arg80delinsGlnCys
NM_000104.4:c.-2+155_-2+156insACT MANE Select NP_000095.2:n.-2+155_-2+156insACT