Canonical Allele Identifier: CA2077137583
Gene: GJB2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20187745_20187749delinsTTAGC , CM000675.2:g.20187745_20187749delinsTTAGC GRCh38
NC_000013.10:g.20761884_20761888delinsTTAGC , CM000675.1:g.20761884_20761888delinsTTAGC GRCh37
NC_000013.9:g.19659884_19659888delinsTTAGC NCBI36
NG_008358.1:g.10227_10231delinsGCTAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.*1152_*1156delinsGCTAA ENSP00000372295.1:n.*1152_*1156delinsGCTAA
ENST00000382848.5:c.*1152_*1156delinsGCTAA MANE Select ENSP00000372299.4:n.*1152_*1156delinsGCTAA
ENST00000382844.1:c.*1152_*1156delinsGCTAA ENSP00000372295.1:n.*1152_*1156delinsGCTAA
ENST00000382848.4:c.*1152_*1156delinsGCTAA ENSP00000372299.4:n.*1152_*1156delinsGCTAA
NM_004004.5:c.*1152_*1156delinsGCTAA NP_003995.2:n.*1152_*1156delinsGCTAA
XM_011535049.1:c.*1152_*1156delinsGCTAA XP_011533351.1:n.*1152_*1156delinsGCTAA
XM_011535049.2:c.*1152_*1156delinsGCTAA XP_011533351.1:n.*1152_*1156delinsGCTAA
NM_004004.6:c.*1152_*1156delinsGCTAA MANE Select NP_003995.2:n.*1152_*1156delinsGCTAA
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