Canonical Allele Identifier: CA2077139438
Gene: GJB2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189224_20189226delinsCCT , CM000675.2:g.20189224_20189226delinsCCT GRCh38
NC_000013.10:g.20763363_20763365delinsCCT , CM000675.1:g.20763363_20763365delinsCCT GRCh37
NC_000013.9:g.19661363_19661365delinsCCT NCBI36
NG_008358.1:g.8750_8752delinsAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.356_358delinsAGG ENSP00000372295.1:p.Glu119=
ENST00000382848.5:c.356_358delinsAGG MANE Select ENSP00000372299.4:p.Glu119=
ENST00000382844.1:c.356_358delinsAGG ENSP00000372295.1:p.Glu119=
ENST00000382848.4:c.356_358delinsAGG ENSP00000372299.4:p.Glu119=
NM_004004.5:c.356_358delinsAGG NP_003995.2:p.Glu119=
XM_011535049.1:c.356_358delinsAGG XP_011533351.1:p.Glu119=
XM_011535049.2:c.356_358delinsAGG XP_011533351.1:p.Glu119=
NM_004004.6:c.356_358delinsAGG MANE Select NP_003995.2:p.Glu119=
Search 100 bp 5'
Search 100 bp 3'