Canonical Allele Identifier: CA2575364830
Gene: GJB2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189642del , CM000675.2:g.20189642del GRCh38
NC_000013.10:g.20763781del , CM000675.1:g.20763781del GRCh37
NC_000013.9:g.19661781del NCBI36
NG_008358.1:g.8334del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.-61del ENSP00000372295.1:n.-61del
ENST00000382848.5:c.-22-39del MANE Select ENSP00000372299.4:n.-22-39del
ENST00000382844.1:c.-61del ENSP00000372295.1:n.-61del
ENST00000382848.4:c.-22-39del ENSP00000372299.4:n.-22-39del
NM_004004.5:c.-22-39del NP_003995.2:n.-22-39del
XM_011535049.1:c.-22-39del XP_011533351.1:n.-22-39del
XM_011535049.2:c.-22-39del XP_011533351.1:n.-22-39del
NM_004004.6:c.-22-39del MANE Select NP_003995.2:n.-22-39del
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