Canonical Allele Identifier: CA2658667428
Gene: CYP1B1 HGNC NCBI

Linked Data

gnomAD v4: 2-38074870-CTCG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38074871_38074873del , CM000664.2:g.38074871_38074873del GRCh38
NC_000002.11:g.38302014_38302016del , CM000664.1:g.38302014_38302016del GRCh37
NC_000002.10:g.38155518_38155520del NCBI36
NG_008386.2:g.6229_6231del

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.516_518del ENSP00000478839.2:p.Ser172_Glu173delinsArg
ENST00000610745.5:c.516_518del MANE Select ENSP00000478561.1:p.Ser172_Glu173delinsArg
ENST00000494864.1:c.-70-3563_-70-3561del ENSP00000479876.1:n.-70-3563_-70-3561del
ENST00000610745.4:c.516_518del ENSP00000478561.1:p.Ser172_Glu173delinsArg
ENST00000613082.1:n.376-465_376-463del
ENST00000614273.1:c.516_518del ENSP00000483678.1:p.Ser172_Glu173delinsArg
NM_000104.3:c.516_518del NP_000095.2:p.Ser172_Glu173delinsArg
NM_000104.4:c.516_518del MANE Select NP_000095.2:p.Ser172_Glu173delinsArg
Search 100 bp 5'
Search 100 bp 3'