Canonical Allele Identifier: CA953783118
Gene: GJB2 HGNC NCBI

Linked Data

dbSNP Id: rs1868382824
gnomAD v3: 13-20192701-G-GCGGC
gnomAD v4: 13-20192701-G-GCGGC
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20192705_20192708dup , CM000675.2:g.20192705_20192708dup GRCh38
NC_000013.10:g.20766844_20766847dup , CM000675.1:g.20766844_20766847dup GRCh37
NC_000013.9:g.19664844_19664847dup NCBI36
NG_008358.1:g.5271_5274dup

Transcript Alleles

HGVS Amino-acid change
ENST00000382848.5:c.-23+78_-23+81dup MANE Select ENSP00000372299.4:n.-23+78_-23+81dup
ENST00000382848.4:c.-23+78_-23+81dup ENSP00000372299.4:n.-23+78_-23+81dup
NM_004004.5:c.-23+78_-23+81dup NP_003995.2:n.-23+78_-23+81dup
NM_004004.6:c.-23+78_-23+81dup MANE Select NP_003995.2:n.-23+78_-23+81dup
Search 100 bp 5'
Search 100 bp 3'