Canonical Allele Identifier: CA2077139298
Gene: GJB2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189178_20189181delinsGTCC , CM000675.2:g.20189178_20189181delinsGTCC GRCh38
NC_000013.10:g.20763317_20763320delinsGTCC , CM000675.1:g.20763317_20763320delinsGTCC GRCh37
NC_000013.9:g.19661317_19661320delinsGTCC NCBI36
NG_008358.1:g.8795_8798delinsGGAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.401_404delinsGGAC ENSP00000372295.1:p.Trp134=
ENST00000382848.5:c.401_404delinsGGAC MANE Select ENSP00000372299.4:p.Trp134=
ENST00000382844.1:c.401_404delinsGGAC ENSP00000372295.1:p.Trp134=
ENST00000382848.4:c.401_404delinsGGAC ENSP00000372299.4:p.Trp134=
NM_004004.5:c.401_404delinsGGAC NP_003995.2:p.Trp134=
XM_011535049.1:c.401_404delinsGGAC XP_011533351.1:p.Trp134=
XM_011535049.2:c.401_404delinsGGAC XP_011533351.1:p.Trp134=
NM_004004.6:c.401_404delinsGGAC MANE Select NP_003995.2:p.Trp134=
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