Canonical Allele Identifier: CA2622252378
Gene: GJB2 HGNC NCBI

Linked Data

gnomAD v4: 13-20189719-CT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189721del , CM000675.2:g.20189721del GRCh38
NC_000013.10:g.20763860del , CM000675.1:g.20763860del GRCh37
NC_000013.9:g.19661860del NCBI36
NG_008358.1:g.8256del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.-139del ENSP00000372295.1:n.-139del
ENST00000382848.5:c.-22-117del MANE Select ENSP00000372299.4:n.-22-117del
ENST00000382844.1:c.-139del ENSP00000372295.1:n.-139del
ENST00000382848.4:c.-22-117del ENSP00000372299.4:n.-22-117del
NM_004004.5:c.-22-117del NP_003995.2:n.-22-117del
XM_011535049.1:c.-22-117del XP_011533351.1:n.-22-117del
XM_011535049.2:c.-22-117del XP_011533351.1:n.-22-117del
NM_004004.6:c.-22-117del MANE Select NP_003995.2:n.-22-117del
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