Canonical Allele Identifier: CA2622251834
Gene: GJB2 HGNC NCBI

Linked Data

gnomAD v4: 13-20188742-TG-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20188744del , CM000675.2:g.20188744del GRCh38
NC_000013.10:g.20762883del , CM000675.1:g.20762883del GRCh37
NC_000013.9:g.19660883del NCBI36
NG_008358.1:g.9233del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.*158del ENSP00000372295.1:n.*158del
ENST00000382848.5:c.*158del MANE Select ENSP00000372299.4:n.*158del
ENST00000382844.1:c.*158del ENSP00000372295.1:n.*158del
ENST00000382848.4:c.*158del ENSP00000372299.4:n.*158del
NM_004004.5:c.*158del NP_003995.2:n.*158del
XM_011535049.1:c.*158del XP_011533351.1:n.*158del
XM_011535049.2:c.*158del XP_011533351.1:n.*158del
NM_004004.6:c.*158del MANE Select NP_003995.2:n.*158del
Search 100 bp 5'
Search 100 bp 3'