Canonical Allele Identifier: CA2622252404
Gene: GJB2 HGNC NCBI

Linked Data

gnomAD v4: 13-20189743-T-TGAA
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189746_20189748dup , CM000675.2:g.20189746_20189748dup GRCh38
NC_000013.10:g.20763885_20763887dup , CM000675.1:g.20763885_20763887dup GRCh37
NC_000013.9:g.19661885_19661887dup NCBI36
NG_008358.1:g.8230_8232dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.-165_-163dup ENSP00000372295.1:n.-165_-163dup
ENST00000382848.5:c.-22-143_-22-141dup MANE Select ENSP00000372299.4:n.-22-143_-22-141dup
ENST00000382844.1:c.-165_-163dup ENSP00000372295.1:n.-165_-163dup
ENST00000382848.4:c.-22-143_-22-141dup ENSP00000372299.4:n.-22-143_-22-141dup
NM_004004.5:c.-22-143_-22-141dup NP_003995.2:n.-22-143_-22-141dup
XM_011535049.1:c.-22-143_-22-141dup XP_011533351.1:n.-22-143_-22-141dup
XM_011535049.2:c.-22-143_-22-141dup XP_011533351.1:n.-22-143_-22-141dup
NM_004004.6:c.-22-143_-22-141dup MANE Select NP_003995.2:n.-22-143_-22-141dup
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