Canonical Allele Identifier: CA2622251459
Gene: GJB2 HGNC NCBI

Linked Data

gnomAD v4: 13-20187946-C-CCTCAT
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20187949_20187950insATCTC , CM000675.2:g.20187949_20187950insATCTC GRCh38
NC_000013.10:g.20762088_20762089insATCTC , CM000675.1:g.20762088_20762089insATCTC GRCh37
NC_000013.9:g.19660088_19660089insATCTC NCBI36
NG_008358.1:g.10029_10030insATGAG

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.*954_*955insATGAG ENSP00000372295.1:n.*954_*955insATGAG
ENST00000382848.5:c.*954_*955insATGAG MANE Select ENSP00000372299.4:n.*954_*955insATGAG
ENST00000382844.1:c.*954_*955insATGAG ENSP00000372295.1:n.*954_*955insATGAG
ENST00000382848.4:c.*954_*955insATGAG ENSP00000372299.4:n.*954_*955insATGAG
NM_004004.5:c.*954_*955insATGAG NP_003995.2:n.*954_*955insATGAG
XM_011535049.1:c.*954_*955insATGAG XP_011533351.1:n.*954_*955insATGAG
XM_011535049.2:c.*954_*955insATGAG XP_011533351.1:n.*954_*955insATGAG
NM_004004.6:c.*954_*955insATGAG MANE Select NP_003995.2:n.*954_*955insATGAG
Search 100 bp 5'
Search 100 bp 3'