Canonical Allele Identifier: CA2798416351
Gene: GJB2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189664_20189676del , CM000675.2:g.20189664_20189676del GRCh38
NC_000013.10:g.20763803_20763815del , CM000675.1:g.20763803_20763815del GRCh37
NC_000013.9:g.19661803_19661815del NCBI36
NG_008358.1:g.8300_8312del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.-95_-83del ENSP00000372295.1:n.-95_-83del
ENST00000382848.5:c.-22-73_-22-61del MANE Select ENSP00000372299.4:n.-22-73_-22-61del
ENST00000382844.1:c.-95_-83del ENSP00000372295.1:n.-95_-83del
ENST00000382848.4:c.-22-73_-22-61del ENSP00000372299.4:n.-22-73_-22-61del
NM_004004.5:c.-22-73_-22-61del NP_003995.2:n.-22-73_-22-61del
XM_011535049.1:c.-22-73_-22-61del XP_011533351.1:n.-22-73_-22-61del
XM_011535049.2:c.-22-73_-22-61del XP_011533351.1:n.-22-73_-22-61del
NM_004004.6:c.-22-73_-22-61del MANE Select NP_003995.2:n.-22-73_-22-61del
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