Canonical Allele Identifier: CA2695217665
Gene: GJB2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189133_20189151del , CM000675.2:g.20189133_20189151del GRCh38
NC_000013.10:g.20763272_20763290del , CM000675.1:g.20763272_20763290del GRCh37
NC_000013.9:g.19661272_19661290del NCBI36
NG_008358.1:g.8825_8843del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.431_449del ENSP00000372295.1:p.Val144AlafsTer18
ENST00000382848.5:c.431_449del MANE Select ENSP00000372299.4:p.Val144AlafsTer18
ENST00000382844.1:c.431_449del ENSP00000372295.1:p.Val144AlafsTer18
ENST00000382848.4:c.431_449del ENSP00000372299.4:p.Val144AlafsTer18
NM_004004.5:c.431_449del NP_003995.2:p.Val144AlafsTer18
XM_011535049.1:c.431_449del XP_011533351.1:p.Val144AlafsTer18
XM_011535049.2:c.431_449del XP_011533351.1:p.Val144AlafsTer18
NM_004004.6:c.431_449del MANE Select NP_003995.2:p.Val144AlafsTer18
Search 100 bp 5'
Search 100 bp 3'