Canonical Allele Identifier: CA2842434862
Gene: GJB2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20188849del , CM000675.2:g.20188849del GRCh38
NC_000013.10:g.20762988del , CM000675.1:g.20762988del GRCh37
NC_000013.9:g.19660988del NCBI36
NG_008358.1:g.9127del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.*52del ENSP00000372295.1:n.*52del
ENST00000382848.5:c.*52del MANE Select ENSP00000372299.4:n.*52del
ENST00000382844.1:c.*52del ENSP00000372295.1:n.*52del
ENST00000382848.4:c.*52del ENSP00000372299.4:n.*52del
NM_004004.5:c.*52del NP_003995.2:n.*52del
XM_011535049.1:c.*52del XP_011533351.1:n.*52del
XM_011535049.2:c.*52del XP_011533351.1:n.*52del
NM_004004.6:c.*52del MANE Select NP_003995.2:n.*52del
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