Canonical Allele Identifier: CA2658667702
Gene: CYP1B1 HGNC NCBI

Linked Data

gnomAD v4: 2-38074998-TG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38074999del , CM000664.2:g.38074999del GRCh38
NC_000002.11:g.38302142del , CM000664.1:g.38302142del GRCh37
NC_000002.10:g.38155646del NCBI36
NG_008386.2:g.6103del

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.390del ENSP00000478839.2:p.Ser131AlafsTer21
ENST00000610745.5:c.390del MANE Select ENSP00000478561.1:p.Ser131AlafsTer21
ENST00000490576.1:c.390del ENSP00000478839.1:p.Ser131AlafsTer?
ENST00000494864.1:c.-70-3689del ENSP00000479876.1:n.-70-3689del
ENST00000610745.4:c.390del ENSP00000478561.1:p.Ser131AlafsTer21
ENST00000613082.1:n.376-591del
ENST00000614273.1:c.390del ENSP00000483678.1:p.Ser131AlafsTer21
NM_000104.3:c.390del NP_000095.2:p.Ser131AlafsTer21
NM_000104.4:c.390del MANE Select NP_000095.2:p.Ser131AlafsTer21
Search 100 bp 5'
Search 100 bp 3'