Canonical Allele Identifier: CA2622252312
Gene: GJB2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189595_20189676del , CM000675.2:g.20189595_20189676del GRCh38
NC_000013.10:g.20763734_20763815del , CM000675.1:g.20763734_20763815del GRCh37
NC_000013.9:g.19661734_19661815del NCBI36
NG_008358.1:g.8306_8387del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.-89_-8del ENSP00000372295.1:n.-89_-8del
ENST00000382848.5:c.-22-67_-8del
ENST00000382844.1:c.-89_-8del ENSP00000372295.1:n.-89_-8del
ENST00000382848.4:c.-22-67_-8del
NM_004004.5:c.-22-67_-8del
XM_011535049.1:c.-22-67_-8del
XM_011535049.2:c.-22-67_-8del
NM_004004.6:c.-22-67_-8del