Canonical Allele Identifier: CA2695217726
Gene: GJB2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189494del , CM000675.2:g.20189494del GRCh38
NC_000013.10:g.20763633del , CM000675.1:g.20763633del GRCh37
NC_000013.9:g.19661633del NCBI36
NG_008358.1:g.8482del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.88del ENSP00000372295.1:p.Ile30PhefsTer5
ENST00000382848.5:c.88del MANE Select ENSP00000372299.4:p.Ile30PhefsTer5
ENST00000382844.1:c.88del ENSP00000372295.1:p.Ile30PhefsTer5
ENST00000382848.4:c.88del ENSP00000372299.4:p.Ile30PhefsTer5
NM_004004.5:c.88del NP_003995.2:p.Ile30PhefsTer5
XM_011535049.1:c.88del XP_011533351.1:p.Ile30PhefsTer5
XM_011535049.2:c.88del XP_011533351.1:p.Ile30PhefsTer5
NM_004004.6:c.88del MANE Select NP_003995.2:p.Ile30PhefsTer5
Search 100 bp 5'
Search 100 bp 3'