Canonical Allele Identifier: CA2622252069
Gene: GJB2 HGNC NCBI

Linked Data

gnomAD v4: 13-20188897-T-TCTAACAAAAAA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20188897_20188898insCTAACAAAAAA , CM000675.2:g.20188897_20188898insCTAACAAAAAA GRCh38
NC_000013.10:g.20763036_20763037insCTAACAAAAAA , CM000675.1:g.20763036_20763037insCTAACAAAAAA GRCh37
NC_000013.9:g.19661036_19661037insCTAACAAAAAA NCBI36
NG_008358.1:g.9078_9079insTTTTTTGTTAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.*3_*4insTTTTTTGTTAG ENSP00000372295.1:n.*3_*4insTTTTTTGTTAG
ENST00000382848.5:c.*3_*4insTTTTTTGTTAG MANE Select ENSP00000372299.4:n.*3_*4insTTTTTTGTTAG
ENST00000382844.1:c.*3_*4insTTTTTTGTTAG ENSP00000372295.1:n.*3_*4insTTTTTTGTTAG
ENST00000382848.4:c.*3_*4insTTTTTTGTTAG ENSP00000372299.4:n.*3_*4insTTTTTTGTTAG
NM_004004.5:c.*3_*4insTTTTTTGTTAG NP_003995.2:n.*3_*4insTTTTTTGTTAG
XM_011535049.1:c.*3_*4insTTTTTTGTTAG XP_011533351.1:n.*3_*4insTTTTTTGTTAG
XM_011535049.2:c.*3_*4insTTTTTTGTTAG XP_011533351.1:n.*3_*4insTTTTTTGTTAG
NM_004004.6:c.*3_*4insTTTTTTGTTAG MANE Select NP_003995.2:n.*3_*4insTTTTTTGTTAG
Search 100 bp 5'
Search 100 bp 3'