Canonical Allele Identifier: CA2077110269
Gene: GJB2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189615_20189616delinsGA , CM000675.2:g.20189615_20189616delinsGA GRCh38
NC_000013.10:g.20763754_20763755delinsGA , CM000675.1:g.20763754_20763755delinsGA GRCh37
NC_000013.9:g.19661754_19661755delinsGA NCBI36
NG_008358.1:g.8360_8361delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.-35_-34delinsTC ENSP00000372295.1:n.-35_-34delinsTC
ENST00000382848.5:c.-22-13_-22-12delinsTC MANE Select ENSP00000372299.4:n.-22-13_-22-12delinsTC
ENST00000382844.1:c.-35_-34delinsTC ENSP00000372295.1:n.-35_-34delinsTC
ENST00000382848.4:c.-22-13_-22-12delinsTC ENSP00000372299.4:n.-22-13_-22-12delinsTC
NM_004004.5:c.-22-13_-22-12delinsTC NP_003995.2:n.-22-13_-22-12delinsTC
XM_011535049.1:c.-22-13_-22-12delinsTC XP_011533351.1:n.-22-13_-22-12delinsTC
XM_011535049.2:c.-22-13_-22-12delinsTC XP_011533351.1:n.-22-13_-22-12delinsTC
NM_004004.6:c.-22-13_-22-12delinsTC MANE Select NP_003995.2:n.-22-13_-22-12delinsTC
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