Canonical Allele Identifier: CA2622251442
Gene: GJB2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20187900del , CM000675.2:g.20187900del GRCh38
NC_000013.10:g.20762039del , CM000675.1:g.20762039del GRCh37
NC_000013.9:g.19660039del NCBI36
NG_008358.1:g.10079del

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.*1004del ENSP00000372295.1:n.*1004del
ENST00000382848.5:c.*1004del MANE Select ENSP00000372299.4:n.*1004del
ENST00000382844.1:c.*1004del ENSP00000372295.1:n.*1004del
ENST00000382848.4:c.*1004del ENSP00000372299.4:n.*1004del
NM_004004.5:c.*1004del NP_003995.2:n.*1004del
XM_011535049.1:c.*1004del XP_011533351.1:n.*1004del
XM_011535049.2:c.*1004del XP_011533351.1:n.*1004del
NM_004004.6:c.*1004del MANE Select NP_003995.2:n.*1004del