Canonical Allele Identifier: CA253868
Gene: GJB3 HGNC NCBI
SMIM12 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34785183_34785185del , CM000663.2:g.34785183_34785185del GRCh38
NC_000001.10:g.35250784_35250786del , CM000663.1:g.35250784_35250786del GRCh37
NC_000001.9:g.35023371_35023373del NCBI36
NG_008309.1:g.8995_8997del

Transcript Alleles

HGVS Amino-acid Change
ENST00000373366.3:c.421_423del (GJB3) MANE Select ENSP00000362464.2:p.Ile141del
ENST00000373362.3:c.421_423del (GJB3) ENSP00000362460.3:p.Ile141del
ENST00000373366.2:c.421_423del (GJB3) ENSP00000362464.2:p.Ile141del
ENST00000426886.1:c.208-66776_208-66774del (SMIM12) ENSP00000429902.1:n.208-66776_208-66774del
NM_001005752.1:c.421_423del (GJB3) NP_001005752.1:p.Ile141del
NM_024009.2:c.421_423del (GJB3) NP_076872.1:p.Ile141del
XR_947179.1:n.1001+13186_1001+13188del
XR_001737967.1:n.1023+13186_1023+13188del
NM_024009.3:c.421_423del (GJB3) MANE Select NP_076872.1:p.Ile141del
NM_001005752.2:c.421_423del (GJB3) NP_001005752.1:p.Ile141del
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