Canonical Allele Identifier: CA2589948351
Gene: GJB2 HGNC NCBI

Linked Data

gnomAD v3: 13-20187704-ATATT-A
gnomAD v4: 13-20187704-ATATT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20187708_20187711del , CM000675.2:g.20187708_20187711del GRCh38
NC_000013.10:g.20761847_20761850del , CM000675.1:g.20761847_20761850del GRCh37
NC_000013.9:g.19659847_19659850del NCBI36
NG_008358.1:g.10268_10271del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.*1193_*1196del ENSP00000372295.1:n.*1193_*1196del
ENST00000382848.5:c.*1193_*1196del MANE Select ENSP00000372299.4:n.*1193_*1196del
ENST00000382844.1:c.*1193_*1196del ENSP00000372295.1:n.*1193_*1196del
ENST00000382848.4:c.*1193_*1196del ENSP00000372299.4:n.*1193_*1196del
NM_004004.5:c.*1193_*1196del NP_003995.2:n.*1193_*1196del
XM_011535049.1:c.*1193_*1196del XP_011533351.1:n.*1193_*1196del
XM_011535049.2:c.*1193_*1196del XP_011533351.1:n.*1193_*1196del
NM_004004.6:c.*1193_*1196del MANE Select NP_003995.2:n.*1193_*1196del
Search 100 bp 5'
Search 100 bp 3'