Canonical Allele Identifier: CA2622251899
Gene: GJB2 HGNC NCBI

Linked Data

gnomAD v4: 13-20188791-TCAG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20188792_20188794del , CM000675.2:g.20188792_20188794del GRCh38
NC_000013.10:g.20762931_20762933del , CM000675.1:g.20762931_20762933del GRCh37
NC_000013.9:g.19660931_19660933del NCBI36
NG_008358.1:g.9182_9184del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.*107_*109del ENSP00000372295.1:n.*107_*109del
ENST00000382848.5:c.*107_*109del MANE Select ENSP00000372299.4:n.*107_*109del
ENST00000382844.1:c.*107_*109del ENSP00000372295.1:n.*107_*109del
ENST00000382848.4:c.*107_*109del ENSP00000372299.4:n.*107_*109del
NM_004004.5:c.*107_*109del NP_003995.2:n.*107_*109del
XM_011535049.1:c.*107_*109del XP_011533351.1:n.*107_*109del
XM_011535049.2:c.*107_*109del XP_011533351.1:n.*107_*109del
NM_004004.6:c.*107_*109del MANE Select NP_003995.2:n.*107_*109del
Search 100 bp 5'
Search 100 bp 3'