Canonical Allele Identifier: CA2077138633
Gene: GJB2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20188931_20188935delinsATATC , CM000675.2:g.20188931_20188935delinsATATC GRCh38
NC_000013.10:g.20763070_20763074delinsATATC , CM000675.1:g.20763070_20763074delinsATATC GRCh37
NC_000013.9:g.19661070_19661074delinsATATC NCBI36
NG_008358.1:g.9041_9045delinsGATAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.647_651delinsGATAT ENSP00000372295.1:p.Arg216=
ENST00000382848.5:c.647_651delinsGATAT MANE Select ENSP00000372299.4:p.Arg216=
ENST00000382844.1:c.647_651delinsGATAT ENSP00000372295.1:p.Arg216=
ENST00000382848.4:c.647_651delinsGATAT ENSP00000372299.4:p.Arg216=
NM_004004.5:c.647_651delinsGATAT NP_003995.2:p.Arg216=
XM_011535049.1:c.647_651delinsGATAT XP_011533351.1:p.Arg216=
XM_011535049.2:c.647_651delinsGATAT XP_011533351.1:p.Arg216=
NM_004004.6:c.647_651delinsGATAT MANE Select NP_003995.2:p.Arg216=
Search 100 bp 5'
Search 100 bp 3'