Canonical Allele Identifier: CA2749546770
Gene: CYP1B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075601del , CM000664.2:g.38075601del GRCh38
NC_000002.11:g.38302744del , CM000664.1:g.38302744del GRCh37
NC_000002.10:g.38156248del NCBI36
NG_008386.2:g.5503del

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.-1-210del ENSP00000478839.2:n.-1-210del
ENST00000610745.5:c.-2+181del MANE Select ENSP00000478561.1:n.-2+181del
ENST00000490576.1:c.-1-210del ENSP00000478839.1:n.-1-210del
ENST00000494864.1:c.-70-4289del ENSP00000479876.1:n.-70-4289del
ENST00000610745.4:c.-2+181del ENSP00000478561.1:n.-2+181del
ENST00000613082.1:n.375+181del
ENST00000614273.1:c.-2+177del ENSP00000483678.1:n.-2+177del
NM_000104.3:c.-2+181del NP_000095.2:n.-2+181del
XM_011533236.1:c.215del XP_011531538.1:p.Pro72GlnfsTer30
NM_000104.4:c.-2+181del MANE Select NP_000095.2:n.-2+181del