Canonical Allele Identifier: CA655105573
Gene: GJB2 HGNC NCBI

Linked Data

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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20188818dup , CM000675.2:g.20188818dup GRCh38
NC_000013.10:g.20762957dup , CM000675.1:g.20762957dup GRCh37
NC_000013.9:g.19660957dup NCBI36
NG_008358.1:g.9158dup

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.*83dup ENSP00000372295.1:n.*83dup
ENST00000382848.5:c.*83dup MANE Select ENSP00000372299.4:n.*83dup
ENST00000382844.1:c.*83dup ENSP00000372295.1:n.*83dup
ENST00000382848.4:c.*83dup ENSP00000372299.4:n.*83dup
NM_004004.5:c.*83dup NP_003995.2:n.*83dup
XM_011535049.1:c.*83dup XP_011533351.1:n.*83dup
XM_011535049.2:c.*83dup XP_011533351.1:n.*83dup
NM_004004.6:c.*83dup MANE Select NP_003995.2:n.*83dup
Search 100 bp 5'
Search 100 bp 3'