Canonical Allele Identifier: CA2644769627
Gene: GJB3 HGNC NCBI
SMIM12 HGNC NCBI

Linked Data

gnomAD v4: 1-34784823-GGGCGCATCT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34784827_34784835del , CM000663.2:g.34784827_34784835del GRCh38
NC_000001.10:g.35250428_35250436del , CM000663.1:g.35250428_35250436del GRCh37
NC_000001.9:g.35023015_35023023del NCBI36
NG_008309.1:g.8639_8647del

Transcript Alleles

HGVS Amino-acid Change
ENST00000373366.3:c.65_73del (GJB3) MANE Select ENSP00000362464.2:p.Arg22_Trp24del
ENST00000373362.3:c.65_73del (GJB3) ENSP00000362460.3:p.Arg22_Trp24del
ENST00000373366.2:c.65_73del (GJB3) ENSP00000362464.2:p.Arg22_Trp24del
ENST00000426886.1:c.208-66423_208-66415del (SMIM12) ENSP00000429902.1:n.208-66423_208-66415del
NM_001005752.1:c.65_73del (GJB3) NP_001005752.1:p.Arg22_Trp24del
NM_024009.2:c.65_73del (GJB3) NP_076872.1:p.Arg22_Trp24del
XR_947179.1:n.1001+13539_1001+13547del
XR_001737967.1:n.1023+13539_1023+13547del
NM_024009.3:c.65_73del (GJB3) MANE Select NP_076872.1:p.Arg22_Trp24del
NM_001005752.2:c.65_73del (GJB3) NP_001005752.1:p.Arg22_Trp24del
Search 100 bp 5'
Search 100 bp 3'