Canonical Allele Identifier: CA10575531
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 17025
ClinVar RCV Id: RCV000018552
dbSNP Id: rs886037625
MyVariant Identifiers: chr13:g.20763437_20763441dupACGTG (hg19) chr13:g.20763436_20763437insACGTG (hg19) chr13:g.20189298_20189302dupACGTG (hg38) chr13:g.20189297_20189298insACGTG (hg38)
PubMed: PMID:12239718
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189298_20189302dup , CM000675.2:g.20189298_20189302dup GRCh38
NC_000013.10:g.20763437_20763441dup , CM000675.1:g.20763437_20763441dup GRCh37
NC_000013.9:g.19661437_19661441dup NCBI36
NG_008358.1:g.8674_8678dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.280_284dup ENSP00000372295.1:p.Ala96ThrfsTer18
ENST00000382848.5:c.280_284dup MANE Select ENSP00000372299.4:p.Ala96ThrfsTer18
ENST00000382844.1:c.280_284dup ENSP00000372295.1:p.Ala96ThrfsTer18
ENST00000382848.4:c.280_284dup ENSP00000372299.4:p.Ala96ThrfsTer18
NM_004004.5:c.280_284dup NP_003995.2:p.Ala96ThrfsTer18
XM_011535049.1:c.280_284dup XP_011533351.1:p.Ala96ThrfsTer18
XM_011535049.2:c.280_284dup XP_011533351.1:p.Ala96ThrfsTer18
NM_004004.6:c.280_284dup MANE Select NP_003995.2:p.Ala96ThrfsTer18
Search 100 bp 5'
Search 100 bp 3'