Canonical Allele Identifier: CA2798416350
Gene: GJB2 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189635_20189656del , CM000675.2:g.20189635_20189656del GRCh38
NC_000013.10:g.20763774_20763795del , CM000675.1:g.20763774_20763795del GRCh37
NC_000013.9:g.19661774_19661795del NCBI36
NG_008358.1:g.8320_8341del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.-75_-54del ENSP00000372295.1:n.-75_-54del
ENST00000382848.5:c.-22-53_-22-32del MANE Select ENSP00000372299.4:n.-22-53_-22-32del
ENST00000382844.1:c.-75_-54del ENSP00000372295.1:n.-75_-54del
ENST00000382848.4:c.-22-53_-22-32del ENSP00000372299.4:n.-22-53_-22-32del
NM_004004.5:c.-22-53_-22-32del NP_003995.2:n.-22-53_-22-32del
XM_011535049.1:c.-22-53_-22-32del XP_011533351.1:n.-22-53_-22-32del
XM_011535049.2:c.-22-53_-22-32del XP_011533351.1:n.-22-53_-22-32del
NM_004004.6:c.-22-53_-22-32del MANE Select NP_003995.2:n.-22-53_-22-32del
Search 100 bp 5'
Search 100 bp 3'