Canonical Allele Identifier: CA246460156
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1989144
ClinVar RCV Id: RCV002786359
dbSNP Id: rs984601006
gnomAD v2: 13-20763285-AGAT-A
gnomAD v3: 13-20189146-AGAT-A
gnomAD v4: 13-20189146-AGAT-A
MyVariant Identifiers: chr13:g.20763286_20763288del (hg19) chr13:g.20189147_20189149del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189149_20189151del , CM000675.2:g.20189149_20189151del GRCh38
NC_000013.10:g.20763288_20763290del , CM000675.1:g.20763288_20763290del GRCh37
NC_000013.9:g.19661288_19661290del NCBI36
NG_008358.1:g.8827_8829del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.433_435del ENSP00000372295.1:p.Ile145del
ENST00000382848.5:c.433_435del MANE Select ENSP00000372299.4:p.Ile145del
ENST00000382844.1:c.433_435del ENSP00000372295.1:p.Ile145del
ENST00000382848.4:c.433_435del ENSP00000372299.4:p.Ile145del
NM_004004.5:c.433_435del NP_003995.2:p.Ile145del
XM_011535049.1:c.433_435del XP_011533351.1:p.Ile145del
XM_011535049.2:c.433_435del XP_011533351.1:p.Ile145del
NM_004004.6:c.433_435del MANE Select NP_003995.2:p.Ile145del
Search 100 bp 5'
Search 100 bp 3'