Canonical Allele Identifier: CA2077140405
Gene: GJB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189482_20189483delinsTA , CM000675.2:g.20189482_20189483delinsTA GRCh38
NC_000013.10:g.20763621_20763622delinsTA , CM000675.1:g.20763621_20763622delinsTA GRCh37
NC_000013.9:g.19661621_19661622delinsTA NCBI36
NG_008358.1:g.8493_8494delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.99_100delinsTA ENSP00000372295.1:p.Ile33=
ENST00000382848.5:c.99_100delinsTA MANE Select ENSP00000372299.4:p.Ile33=
ENST00000382844.1:c.99_100delinsTA ENSP00000372295.1:p.Ile33=
ENST00000382848.4:c.99_100delinsTA ENSP00000372299.4:p.Ile33=
NM_004004.5:c.99_100delinsTA NP_003995.2:p.Ile33=
XM_011535049.1:c.99_100delinsTA XP_011533351.1:p.Ile33=
XM_011535049.2:c.99_100delinsTA XP_011533351.1:p.Ile33=
NM_004004.6:c.99_100delinsTA MANE Select NP_003995.2:p.Ile33=