Canonical Allele Identifier: CA2695217711
Gene: GJB2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189313del , CM000675.2:g.20189313del GRCh38
NC_000013.10:g.20763452del , CM000675.1:g.20763452del GRCh37
NC_000013.9:g.19661452del NCBI36
NG_008358.1:g.8663del

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.269del ENSP00000372295.1:p.Leu90GlnfsTer22
ENST00000382848.5:c.269del MANE Select ENSP00000372299.4:p.Leu90GlnfsTer22
ENST00000382844.1:c.269del ENSP00000372295.1:p.Leu90GlnfsTer22
ENST00000382848.4:c.269del ENSP00000372299.4:p.Leu90GlnfsTer22
NM_004004.5:c.269del NP_003995.2:p.Leu90GlnfsTer22
XM_011535049.1:c.269del XP_011533351.1:p.Leu90GlnfsTer22
XM_011535049.2:c.269del XP_011533351.1:p.Leu90GlnfsTer22
NM_004004.6:c.269del MANE Select NP_003995.2:p.Leu90GlnfsTer22
Search 100 bp 5'
Search 100 bp 3'