Canonical Allele Identifier: CA387461735
Gene: GJB2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.20189416del (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189418del , CM000675.2:g.20189418del GRCh38
NC_000013.10:g.20763557del , CM000675.1:g.20763557del GRCh37
NC_000013.9:g.19661557del NCBI36
NG_008358.1:g.8560del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.166del ENSP00000372295.1:p.Leu56CysfsTer26
ENST00000382848.5:c.166del MANE Select ENSP00000372299.4:p.Leu56CysfsTer26
ENST00000382844.1:c.166del ENSP00000372295.1:p.Leu56CysfsTer26
ENST00000382848.4:c.166del ENSP00000372299.4:p.Leu56CysfsTer26
NM_004004.5:c.166del NP_003995.2:p.Leu56CysfsTer26
XM_011535049.1:c.166del XP_011533351.1:p.Leu56CysfsTer26
XM_011535049.2:c.166del XP_011533351.1:p.Leu56CysfsTer26
NM_004004.6:c.166del MANE Select NP_003995.2:p.Leu56CysfsTer26