Canonical Allele Identifier: CA912980099
Gene: GJB2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189451_20189453del , CM000675.2:g.20189451_20189453del GRCh38
NC_000013.10:g.20763590_20763592del , CM000675.1:g.20763590_20763592del GRCh37
NC_000013.9:g.19661590_19661592del NCBI36
NG_008358.1:g.8524_8526del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.130_132del ENSP00000372295.1:p.Trp44del
ENST00000382848.5:c.130_132del MANE Select ENSP00000372299.4:p.Trp44del
ENST00000382844.1:c.130_132del ENSP00000372295.1:p.Trp44del
ENST00000382848.4:c.130_132del ENSP00000372299.4:p.Trp44del
NM_004004.5:c.130_132del NP_003995.2:p.Trp44del
XM_011535049.1:c.130_132del XP_011533351.1:p.Trp44del
XM_011535049.2:c.130_132del XP_011533351.1:p.Trp44del
NM_004004.6:c.130_132del MANE Select NP_003995.2:p.Trp44del