Canonical Allele Identifier: CA261653
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 44761
dbSNP Id: rs111033335

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20188982_20188990delinsGAATGTCATGAACACTG , CM000675.2:g.20188982_20188990delinsGAATGTCATGAACACTG GRCh38
NC_000013.10:g.20763121_20763129delinsGAATGTCATGAACACTG , CM000675.1:g.20763121_20763129delinsGAATGTCATGAACACTG GRCh37
NC_000013.9:g.19661121_19661129delinsGAATGTCATGAACACTG NCBI36
NG_008358.1:g.8986_8994delinsCAGTGTTCATGACATTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.592_600delinsCAGTGTTCATGACATTC ENSP00000372295.1:p.Val198GlnfsTer4
ENST00000382848.5:c.592_600delinsCAGTGTTCATGACATTC MANE Select ENSP00000372299.4:p.Val198GlnfsTer4
ENST00000382844.1:c.592_600delinsCAGTGTTCATGACATTC ENSP00000372295.1:p.Val198GlnfsTer4
ENST00000382848.4:c.592_600delinsCAGTGTTCATGACATTC ENSP00000372299.4:p.Val198GlnfsTer4
NM_004004.5:c.592_600delinsCAGTGTTCATGACATTC NP_003995.2:p.Val198GlnfsTer4
XM_011535049.1:c.592_600delinsCAGTGTTCATGACATTC XP_011533351.1:p.Val198GlnfsTer4
XM_011535049.2:c.592_600delinsCAGTGTTCATGACATTC XP_011533351.1:p.Val198GlnfsTer4
NM_004004.6:c.592_600delinsCAGTGTTCATGACATTC MANE Select NP_003995.2:p.Val198GlnfsTer4