Canonical Allele Identifier: CA532236934
Gene: CYP1B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2203050
ClinVar RCV Id: RCV002651455
dbSNP Id: rs1373671407
gnomAD v2: 2-38302313-CGA-C
gnomAD v3: 2-38075170-CGA-C
gnomAD v4: 2-38075170-CGA-C
MyVariant Identifiers: chr2:g.38302314_38302315del (hg19) chr2:g.38075171_38075172del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075174_38075175del , CM000664.2:g.38075174_38075175del GRCh38
NC_000002.11:g.38302317_38302318del , CM000664.1:g.38302317_38302318del GRCh37
NC_000002.10:g.38155821_38155822del NCBI36
NG_008386.2:g.5930_5931del

Transcript Alleles

HGVS Amino-acid change
ENST00000490576.2:c.217_218del ENSP00000478839.2:p.Ser73ValfsTer?
ENST00000610745.5:c.217_218del MANE Select ENSP00000478561.1:p.Ser73ValfsTer?
ENST00000490576.1:c.217_218del ENSP00000478839.1:p.Ser73ValfsTer?
ENST00000494864.1:c.-70-3862_-70-3861del ENSP00000479876.1:n.-70-3862_-70-3861del
ENST00000610745.4:c.217_218del ENSP00000478561.1:p.Ser73ValfsTer?
ENST00000613082.1:n.375+608_375+609del
ENST00000614273.1:c.217_218del ENSP00000483678.1:p.Ser73ValfsTer?
NM_000104.3:c.217_218del NP_000095.2:p.Ser73ValfsTer?
NM_000104.4:c.217_218del MANE Select NP_000095.2:p.Ser73ValfsTer?
Search 100 bp 5'
Search 100 bp 3'