Canonical Allele Identifier: CA2749546766
Gene: CYP1B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075594_38075595insAC , CM000664.2:g.38075594_38075595insAC GRCh38
NC_000002.11:g.38302737_38302738insAC , CM000664.1:g.38302737_38302738insAC GRCh37
NC_000002.10:g.38156241_38156242insAC NCBI36
NG_008386.2:g.5507_5508insGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.-1-206_-1-205insGT ENSP00000478839.2:n.-1-206_-1-205insGT
ENST00000610745.5:c.-2+185_-2+186insGT MANE Select ENSP00000478561.1:n.-2+185_-2+186insGT
ENST00000490576.1:c.-1-206_-1-205insGT ENSP00000478839.1:n.-1-206_-1-205insGT
ENST00000494864.1:c.-70-4285_-70-4284insGT ENSP00000479876.1:n.-70-4285_-70-4284insGT
ENST00000610745.4:c.-2+185_-2+186insGT ENSP00000478561.1:n.-2+185_-2+186insGT
ENST00000613082.1:n.375+185_375+186insGT
ENST00000614273.1:c.-2+181_-2+182insGT ENSP00000483678.1:n.-2+181_-2+182insGT
NM_000104.3:c.-2+185_-2+186insGT NP_000095.2:n.-2+185_-2+186insGT
XM_011533236.1:c.208_209insAC XP_011531538.1:p.Cys70TyrfsTer?
NM_000104.4:c.-2+185_-2+186insGT MANE Select NP_000095.2:n.-2+185_-2+186insGT