Canonical Allele Identifier: CA2077140283
Gene: GJB2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189454_20189457delinsACCT , CM000675.2:g.20189454_20189457delinsACCT GRCh38
NC_000013.10:g.20763593_20763596delinsACCT , CM000675.1:g.20763593_20763596delinsACCT GRCh37
NC_000013.9:g.19661593_19661596delinsACCT NCBI36
NG_008358.1:g.8519_8522delinsAGGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.125_128delinsAGGT ENSP00000372295.1:p.Glu42=
ENST00000382848.5:c.125_128delinsAGGT MANE Select ENSP00000372299.4:p.Glu42=
ENST00000382844.1:c.125_128delinsAGGT ENSP00000372295.1:p.Glu42=
ENST00000382848.4:c.125_128delinsAGGT ENSP00000372299.4:p.Glu42=
NM_004004.5:c.125_128delinsAGGT NP_003995.2:p.Glu42=
XM_011535049.1:c.125_128delinsAGGT XP_011533351.1:p.Glu42=
XM_011535049.2:c.125_128delinsAGGT XP_011533351.1:p.Glu42=
NM_004004.6:c.125_128delinsAGGT MANE Select NP_003995.2:p.Glu42=
Search 100 bp 5'
Search 100 bp 3'