Canonical Allele Identifier: CA912980092
Gene: GJB2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.20763049_20763053del (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20188910_20188914del , CM000675.2:g.20188910_20188914del GRCh38
NC_000013.10:g.20763049_20763053del , CM000675.1:g.20763049_20763053del GRCh37
NC_000013.9:g.19661049_19661053del NCBI36
NG_008358.1:g.9062_9066del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.668_672del ENSP00000372295.1:p.Lys223ThrfsTer?
ENST00000382848.5:c.668_672del MANE Select ENSP00000372299.4:p.Lys223ThrfsTer?
ENST00000382844.1:c.668_672del ENSP00000372295.1:p.Lys223ThrfsTer?
ENST00000382848.4:c.668_672del ENSP00000372299.4:p.Lys223ThrfsTer?
NM_004004.5:c.668_672del NP_003995.2:p.Lys223ThrfsTer?
XM_011535049.1:c.668_672del XP_011533351.1:p.Lys223ThrfsTer?
XM_011535049.2:c.668_672del XP_011533351.1:p.Lys223ThrfsTer?
NM_004004.6:c.668_672del MANE Select NP_003995.2:p.Lys223ThrfsTer?
Search 100 bp 5'
Search 100 bp 3'