Canonical Allele Identifier: CA2798416348
Gene: GJB2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189605_20189629del , CM000675.2:g.20189605_20189629del GRCh38
NC_000013.10:g.20763744_20763768del , CM000675.1:g.20763744_20763768del GRCh37
NC_000013.9:g.19661744_19661768del NCBI36
NG_008358.1:g.8348_8372del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.-47_-23del ENSP00000372295.1:n.-47_-23del
ENST00000382848.5:c.-22-25_-22-1del MANE Select ENSP00000372299.4:n.-22-25_-22-1del
ENST00000382844.1:c.-47_-23del ENSP00000372295.1:n.-47_-23del
ENST00000382848.4:c.-22-25_-22-1del ENSP00000372299.4:n.-22-25_-22-1del
NM_004004.5:c.-22-25_-22-1del NP_003995.2:n.-22-25_-22-1del
XM_011535049.1:c.-22-25_-22-1del XP_011533351.1:n.-22-25_-22-1del
XM_011535049.2:c.-22-25_-22-1del XP_011533351.1:n.-22-25_-22-1del
NM_004004.6:c.-22-25_-22-1del MANE Select NP_003995.2:n.-22-25_-22-1del
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