Canonical Allele Identifier: CA2586969146
Gene: CYP1B1 HGNC NCBI

Linked Data

gnomAD v4: 2-38075025-A-AGGCGAAGGCCGGCCGGTC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075037_38075054dup , CM000664.2:g.38075037_38075054dup GRCh38
NC_000002.11:g.38302180_38302197dup , CM000664.1:g.38302180_38302197dup GRCh37
NC_000002.10:g.38155684_38155701dup NCBI36
NG_008386.2:g.6059_6076dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.346_363dup ENSP00000478839.2:p.Ala121_Ser122insAspArgProAlaPheAla
ENST00000610745.5:c.346_363dup MANE Select ENSP00000478561.1:p.Ala121_Ser122insAspArgProAlaPheAla
ENST00000490576.1:c.346_363dup ENSP00000478839.1:p.Ala121_Ser122insAspArgProAlaPheAla
ENST00000494864.1:c.-70-3733_-70-3716dup ENSP00000479876.1:n.-70-3733_-70-3716dup
ENST00000610745.4:c.346_363dup ENSP00000478561.1:p.Ala121_Ser122insAspArgProAlaPheAla
ENST00000613082.1:n.376-635_376-618dup
ENST00000614273.1:c.346_363dup ENSP00000483678.1:p.Ala121_Ser122insAspArgProAlaPheAla
NM_000104.3:c.346_363dup NP_000095.2:p.Ala121_Ser122insAspArgProAlaPheAla
NM_000104.4:c.346_363dup MANE Select NP_000095.2:p.Ala121_Ser122insAspArgProAlaPheAla
Search 100 bp 5'
Search 100 bp 3'