Canonical Allele Identifier: CA1162031832
Gene: GJB3 HGNC NCBI
SMIM12 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34781561_34781562delinsAG , CM000663.2:g.34781561_34781562delinsAG GRCh38
NC_000001.10:g.35247162_35247163delinsAG , CM000663.1:g.35247162_35247163delinsAG GRCh37
NC_000001.9:g.35019749_35019750delinsAG NCBI36
NG_008309.1:g.5373_5374delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000373366.3:c.-243_-242delinsAG (GJB3) MANE Select ENSP00000362464.2:n.-243_-242delinsAG
ENST00000373366.2:c.-243_-242delinsAG (GJB3) ENSP00000362464.2:n.-243_-242delinsAG
ENST00000426886.1:c.208-63153_208-63152delinsCT (SMIM12) ENSP00000429902.1:n.208-63153_208-63152delinsCT
NM_024009.2:c.-243_-242delinsAG (GJB3) NP_076872.1:n.-243_-242delinsAG
XR_947179.1:n.1001+16809_1001+16810delinsCT
XR_001737967.1:n.1023+16809_1023+16810delinsCT
NM_024009.3:c.-243_-242delinsAG (GJB3) MANE Select NP_076872.1:n.-243_-242delinsAG
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