Canonical Allele Identifier: CA2077137579
Gene: GJB2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20187738_20187740delinsCAT , CM000675.2:g.20187738_20187740delinsCAT GRCh38
NC_000013.10:g.20761877_20761879delinsCAT , CM000675.1:g.20761877_20761879delinsCAT GRCh37
NC_000013.9:g.19659877_19659879delinsCAT NCBI36
NG_008358.1:g.10236_10238delinsATG

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.*1161_*1163delinsATG ENSP00000372295.1:n.*1161_*1163delinsATG
ENST00000382848.5:c.*1161_*1163delinsATG MANE Select ENSP00000372299.4:n.*1161_*1163delinsATG
ENST00000382844.1:c.*1161_*1163delinsATG ENSP00000372295.1:n.*1161_*1163delinsATG
ENST00000382848.4:c.*1161_*1163delinsATG ENSP00000372299.4:n.*1161_*1163delinsATG
NM_004004.5:c.*1161_*1163delinsATG NP_003995.2:n.*1161_*1163delinsATG
XM_011535049.1:c.*1161_*1163delinsATG XP_011533351.1:n.*1161_*1163delinsATG
XM_011535049.2:c.*1161_*1163delinsATG XP_011533351.1:n.*1161_*1163delinsATG
NM_004004.6:c.*1161_*1163delinsATG MANE Select NP_003995.2:n.*1161_*1163delinsATG
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