Canonical Allele Identifier: CA2622252625
Gene: GJB2 HGNC NCBI

Linked Data

gnomAD v4: 13-20192687-TC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20192691del , CM000675.2:g.20192691del GRCh38
NC_000013.10:g.20766830del , CM000675.1:g.20766830del GRCh37
NC_000013.9:g.19664830del NCBI36
NG_008358.1:g.5288del

Transcript Alleles

HGVS Amino-acid change
ENST00000382848.5:c.-23+95del MANE Select ENSP00000372299.4:n.-23+95del
ENST00000382848.4:c.-23+95del ENSP00000372299.4:n.-23+95del
NM_004004.5:c.-23+95del NP_003995.2:n.-23+95del
NM_004004.6:c.-23+95del MANE Select NP_003995.2:n.-23+95del
Search 100 bp 5'
Search 100 bp 3'