Canonical Allele Identifier: CA2077110492
Gene: GJB2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189758_20189764delinsCTTAGTT , CM000675.2:g.20189758_20189764delinsCTTAGTT GRCh38
NC_000013.10:g.20763897_20763903delinsCTTAGTT , CM000675.1:g.20763897_20763903delinsCTTAGTT GRCh37
NC_000013.9:g.19661897_19661903delinsCTTAGTT NCBI36
NG_008358.1:g.8212_8218delinsAACTAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.-183_-177delinsAACTAAG ENSP00000372295.1:n.-183_-177delinsAACTAAG
ENST00000382848.5:c.-22-161_-22-155delinsAACTAAG MANE Select ENSP00000372299.4:n.-22-161_-22-155delinsAACTAAG
ENST00000382844.1:c.-183_-177delinsAACTAAG ENSP00000372295.1:n.-183_-177delinsAACTAAG
ENST00000382848.4:c.-22-161_-22-155delinsAACTAAG ENSP00000372299.4:n.-22-161_-22-155delinsAACTAAG
NM_004004.5:c.-22-161_-22-155delinsAACTAAG NP_003995.2:n.-22-161_-22-155delinsAACTAAG
XM_011535049.1:c.-22-161_-22-155delinsAACTAAG XP_011533351.1:n.-22-161_-22-155delinsAACTAAG
XM_011535049.2:c.-22-161_-22-155delinsAACTAAG XP_011533351.1:n.-22-161_-22-155delinsAACTAAG
NM_004004.6:c.-22-161_-22-155delinsAACTAAG MANE Select NP_003995.2:n.-22-161_-22-155delinsAACTAAG
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