Canonical Allele Identifier: CA2572432969
Gene: GJB2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20192609_20192610insGGAATGGGG , CM000675.2:g.20192609_20192610insGGAATGGGG GRCh38
NC_000013.10:g.20766748_20766749insGGAATGGGG , CM000675.1:g.20766748_20766749insGGAATGGGG GRCh37
NC_000013.9:g.19664748_19664749insGGAATGGGG NCBI36
NG_008358.1:g.5366_5367insCCCCATTCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000382848.5:c.-23+173_-23+174insCCCCATTCC MANE Select ENSP00000372299.4:n.-23+173_-23+174insCCCCATTCC
ENST00000382848.4:c.-23+173_-23+174insCCCCATTCC ENSP00000372299.4:n.-23+173_-23+174insCCCCATTCC
NM_004004.5:c.-23+173_-23+174insCCCCATTCC NP_003995.2:n.-23+173_-23+174insCCCCATTCC
NM_004004.6:c.-23+173_-23+174insCCCCATTCC MANE Select NP_003995.2:n.-23+173_-23+174insCCCCATTCC
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