Canonical Allele Identifier: CA2622252288
Gene: GJB2 HGNC NCBI

Linked Data

gnomAD v4: 13-20189177-G-GTTGAACTCCTGGGCTCAAGTGATCCTCTC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189177_20189178insTTGAACTCCTGGGCTCAAGTGATCCTCTC , CM000675.2:g.20189177_20189178insTTGAACTCCTGGGCTCAAGTGATCCTCTC GRCh38
NC_000013.10:g.20763316_20763317insTTGAACTCCTGGGCTCAAGTGATCCTCTC , CM000675.1:g.20763316_20763317insTTGAACTCCTGGGCTCAAGTGATCCTCTC GRCh37
NC_000013.9:g.19661316_19661317insTTGAACTCCTGGGCTCAAGTGATCCTCTC NCBI36
NG_008358.1:g.8798_8799insGAGAGGATCACTTGAGCCCAGGAGTTCAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.404_405insGAGAGGATCACTTGAGCCCAGGAGTTCAA ENSP00000372295.1:p.Tyr136ArgfsTer?
ENST00000382848.5:c.404_405insGAGAGGATCACTTGAGCCCAGGAGTTCAA MANE Select ENSP00000372299.4:p.Tyr136ArgfsTer?
ENST00000382844.1:c.404_405insGAGAGGATCACTTGAGCCCAGGAGTTCAA ENSP00000372295.1:p.Tyr136ArgfsTer?
ENST00000382848.4:c.404_405insGAGAGGATCACTTGAGCCCAGGAGTTCAA ENSP00000372299.4:p.Tyr136ArgfsTer?
NM_004004.5:c.404_405insGAGAGGATCACTTGAGCCCAGGAGTTCAA NP_003995.2:p.Tyr136ArgfsTer?
XM_011535049.1:c.404_405insGAGAGGATCACTTGAGCCCAGGAGTTCAA XP_011533351.1:p.Tyr136ArgfsTer?
XM_011535049.2:c.404_405insGAGAGGATCACTTGAGCCCAGGAGTTCAA XP_011533351.1:p.Tyr136ArgfsTer?
NM_004004.6:c.404_405insGAGAGGATCACTTGAGCCCAGGAGTTCAA MANE Select NP_003995.2:p.Tyr136ArgfsTer?
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