Canonical Allele Identifier: CA10643935
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 311352
ClinVar RCV Id: RCV000259327 RCV000274694 RCV000319140 RCV000354187 RCV000355379
dbSNP Id: rs886050025
gnomAD v3: 13-20187606-ATACT-A
gnomAD v4: 13-20187606-ATACT-A
MyVariant Identifiers: chr13:g.20761746_20761749del (hg19) chr13:g.20187607_20187610del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20187610_20187613del , CM000675.2:g.20187610_20187613del GRCh38
NC_000013.10:g.20761749_20761752del , CM000675.1:g.20761749_20761752del GRCh37
NC_000013.9:g.19659749_19659752del NCBI36
NG_008358.1:g.10366_10369del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.*1291_*1294del ENSP00000372295.1:n.*1291_*1294del
ENST00000382848.5:c.*1291_*1294del MANE Select ENSP00000372299.4:n.*1291_*1294del
ENST00000382844.1:c.*1291_*1294del ENSP00000372295.1:n.*1291_*1294del
ENST00000382848.4:c.*1291_*1294del ENSP00000372299.4:n.*1291_*1294del
NM_004004.5:c.*1291_*1294del NP_003995.2:n.*1291_*1294del
XM_011535049.1:c.*1291_*1294del XP_011533351.1:n.*1291_*1294del
XM_011535049.2:c.*1291_*1294del XP_011533351.1:n.*1291_*1294del
NM_004004.6:c.*1291_*1294del MANE Select NP_003995.2:n.*1291_*1294del
Search 100 bp 5'
Search 100 bp 3'