Canonical Allele Identifier: CA2622252282
Gene: GJB2 HGNC NCBI

Linked Data

gnomAD v4: 13-20189103-C-CCGG
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189105_20189106insGCG , CM000675.2:g.20189105_20189106insGCG GRCh38
NC_000013.10:g.20763244_20763245insGCG , CM000675.1:g.20763244_20763245insGCG GRCh37
NC_000013.9:g.19661244_19661245insGCG NCBI36
NG_008358.1:g.8872_8873insCCG

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.478_479insCCG ENSP00000372295.1:p.Asp159_Gly160insAla
ENST00000382848.5:c.478_479insCCG MANE Select ENSP00000372299.4:p.Asp159_Gly160insAla
ENST00000382844.1:c.478_479insCCG ENSP00000372295.1:p.Asp159_Gly160insAla
ENST00000382848.4:c.478_479insCCG ENSP00000372299.4:p.Asp159_Gly160insAla
NM_004004.5:c.478_479insCCG NP_003995.2:p.Asp159_Gly160insAla
XM_011535049.1:c.478_479insCCG XP_011533351.1:p.Asp159_Gly160insAla
XM_011535049.2:c.478_479insCCG XP_011533351.1:p.Asp159_Gly160insAla
NM_004004.6:c.478_479insCCG MANE Select NP_003995.2:p.Asp159_Gly160insAla
Search 100 bp 5'
Search 100 bp 3'