Canonical Allele Identifier: CA2622252304
Gene: GJB2 HGNC NCBI

Linked Data

gnomAD v4: 13-20189428-CA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189431del , CM000675.2:g.20189431del GRCh38
NC_000013.10:g.20763570del , CM000675.1:g.20763570del GRCh37
NC_000013.9:g.19661570del NCBI36
NG_008358.1:g.8547del

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.153del ENSP00000372295.1:p.Phe51LeufsTer?
ENST00000382848.5:c.153del MANE Select ENSP00000372299.4:p.Phe51LeufsTer?
ENST00000382844.1:c.153del ENSP00000372295.1:p.Phe51LeufsTer?
ENST00000382848.4:c.153del ENSP00000372299.4:p.Phe51LeufsTer?
NM_004004.5:c.153del NP_003995.2:p.Phe51LeufsTer?
XM_011535049.1:c.153del XP_011533351.1:p.Phe51LeufsTer?
XM_011535049.2:c.153del XP_011533351.1:p.Phe51LeufsTer?
NM_004004.6:c.153del MANE Select NP_003995.2:p.Phe51LeufsTer?
Search 100 bp 5'
Search 100 bp 3'