Canonical Allele Identifier: CA2622251789
Gene: GJB2 HGNC NCBI

Linked Data

gnomAD v4: 13-20188715-AG-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20188719del , CM000675.2:g.20188719del GRCh38
NC_000013.10:g.20762858del , CM000675.1:g.20762858del GRCh37
NC_000013.9:g.19660858del NCBI36
NG_008358.1:g.9260del

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.*185del ENSP00000372295.1:n.*185del
ENST00000382848.5:c.*185del MANE Select ENSP00000372299.4:n.*185del
ENST00000382844.1:c.*185del ENSP00000372295.1:n.*185del
ENST00000382848.4:c.*185del ENSP00000372299.4:n.*185del
NM_004004.5:c.*185del NP_003995.2:n.*185del
XM_011535049.1:c.*185del XP_011533351.1:n.*185del
XM_011535049.2:c.*185del XP_011533351.1:n.*185del
NM_004004.6:c.*185del MANE Select NP_003995.2:n.*185del
Search 100 bp 5'
Search 100 bp 3'