Canonical Allele Identifier: CA2589948386
Gene: GJB2 HGNC NCBI

Linked Data

gnomAD v3: 13-20188764-AGGGGTT-A
gnomAD v4: 13-20188764-AGGGGTT-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20188765_20188770del , CM000675.2:g.20188765_20188770del GRCh38
NC_000013.10:g.20762904_20762909del , CM000675.1:g.20762904_20762909del GRCh37
NC_000013.9:g.19660904_19660909del NCBI36
NG_008358.1:g.9206_9211del

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.*131_*136del ENSP00000372295.1:n.*131_*136del
ENST00000382848.5:c.*131_*136del MANE Select ENSP00000372299.4:n.*131_*136del
ENST00000382844.1:c.*131_*136del ENSP00000372295.1:n.*131_*136del
ENST00000382848.4:c.*131_*136del ENSP00000372299.4:n.*131_*136del
NM_004004.5:c.*131_*136del NP_003995.2:n.*131_*136del
XM_011535049.1:c.*131_*136del XP_011533351.1:n.*131_*136del
XM_011535049.2:c.*131_*136del XP_011533351.1:n.*131_*136del
NM_004004.6:c.*131_*136del MANE Select NP_003995.2:n.*131_*136del
Search 100 bp 5'
Search 100 bp 3'