Canonical Allele Identifier: CA2077139640
Gene: GJB2 HGNC NCBI

Linked Data

dbSNP Id: rs1959059591
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189285_20189286insA , CM000675.2:g.20189285_20189286insA GRCh38
NC_000013.10:g.20763424_20763425insA , CM000675.1:g.20763424_20763425insA GRCh37
NC_000013.9:g.19661424_19661425insA NCBI36
NG_008358.1:g.8690_8691insT

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.296_297insT ENSP00000372295.1:p.Arg99SerfsTer3
ENST00000382848.5:c.296_297insT MANE Select ENSP00000372299.4:p.Arg99SerfsTer3
ENST00000382844.1:c.296_297insT ENSP00000372295.1:p.Arg99SerfsTer3
ENST00000382848.4:c.296_297insT ENSP00000372299.4:p.Arg99SerfsTer3
NM_004004.5:c.296_297insT NP_003995.2:p.Arg99SerfsTer3
XM_011535049.1:c.296_297insT XP_011533351.1:p.Arg99SerfsTer3
XM_011535049.2:c.296_297insT XP_011533351.1:p.Arg99SerfsTer3
NM_004004.6:c.296_297insT MANE Select NP_003995.2:p.Arg99SerfsTer3
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