Canonical Allele Identifier: CA2586969131
Gene: CYP1B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38074561del , CM000664.2:g.38074561del GRCh38
NC_000002.11:g.38301704del , CM000664.1:g.38301704del GRCh37
NC_000002.10:g.38155208del NCBI36
NG_008386.2:g.6541del

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.828del ENSP00000478839.2:p.Leu277Ter
ENST00000610745.5:c.828del MANE Select ENSP00000478561.1:p.Leu277Ter
ENST00000494864.1:c.-70-3251del ENSP00000479876.1:n.-70-3251del
ENST00000610745.4:c.828del ENSP00000478561.1:p.Leu277Ter
ENST00000613082.1:n.376-153del
ENST00000614273.1:c.828del ENSP00000483678.1:p.Leu277Ter
NM_000104.3:c.828del NP_000095.2:p.Leu277Ter
NM_000104.4:c.828del MANE Select NP_000095.2:p.Leu277Ter