Canonical Allele Identifier: CA2644769006

Gene: GJB3 SMIM12

Linked Data

• gnomAD v4: 1-34781681-TGTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34781682_34781684del , CM000663.2:g.34781682_34781684del	GRCh38
NC_000001.10:g.35247283_35247285del , CM000663.1:g.35247283_35247285del	GRCh37
NC_000001.9:g.35019870_35019872del	NCBI36
NG_008309.1:g.5494_5496del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373366.3:c.-122_-120del (GJB3) MANE Select	ENSP00000362464.2:n.-122_-120del
ENST00000373366.2:c.-122_-120del (GJB3)	ENSP00000362464.2:n.-122_-120del
ENST00000426886.1:c.208-63275_208-63273del (SMIM12)	ENSP00000429902.1:n.208-63275_208-63273del
NM_024009.2:c.-122_-120del (GJB3)	NP_076872.1:n.-122_-120del
XR_947179.1:n.1001+16687_1001+16689del
XR_001737967.1:n.1023+16687_1023+16689del
NM_024009.3:c.-122_-120del (GJB3) MANE Select	NP_076872.1:n.-122_-120del