Canonical Allele Identifier: CA2077138679
Gene: GJB2 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20188947_20188952delinsTAACAC , CM000675.2:g.20188947_20188952delinsTAACAC GRCh38
NC_000013.10:g.20763086_20763091delinsTAACAC , CM000675.1:g.20763086_20763091delinsTAACAC GRCh37
NC_000013.9:g.19661086_19661091delinsTAACAC NCBI36
NG_008358.1:g.9024_9029delinsGTGTTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.630_635delinsGTGTTA ENSP00000372295.1:p.Leu210=
ENST00000382848.5:c.630_635delinsGTGTTA MANE Select ENSP00000372299.4:p.Leu210=
ENST00000382844.1:c.630_635delinsGTGTTA ENSP00000372295.1:p.Leu210=
ENST00000382848.4:c.630_635delinsGTGTTA ENSP00000372299.4:p.Leu210=
NM_004004.5:c.630_635delinsGTGTTA NP_003995.2:p.Leu210=
XM_011535049.1:c.630_635delinsGTGTTA XP_011533351.1:p.Leu210=
XM_011535049.2:c.630_635delinsGTGTTA XP_011533351.1:p.Leu210=
NM_004004.6:c.630_635delinsGTGTTA MANE Select NP_003995.2:p.Leu210=
Search 100 bp 5'
Search 100 bp 3'