Canonical Allele Identifier: CA183319

Gene: GJB6

Linked Data

• ClinVar Variation Id: 95435
• ClinVar RCV Id: RCV000081460 ; RCV000155697 ; RCV001854433
• dbSNP Id: rs398124237
• ExAC: 13:20796930 A / AT
• gnomAD v2: 13-20796930-A-AT
• gnomAD v3: 13-20222791-A-AT
• gnomAD v4: 13-20222791-A-AT
• COSMIC: COSM1365743
• MyVariant Identifiers: chr13:g.20796931dup (hg19) ; chr13:g.20796931dupT (hg19) ; chr13:g.20796930_20796931insT (hg19) ; chr13:g.20222792dupT (hg38) ; chr13:g.20222791_20222792insT (hg38)
• PubMed: PMID:19723508 ; PMID:23757202

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20222798dup , CM000675.2:g.20222798dup	GRCh38
NC_000013.10:g.20796937dup , CM000675.1:g.20796937dup	GRCh37
NC_000013.9:g.19694937dup	NCBI36
NG_008323.1:g.14604dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241124.11:c.689dup	ENSP00000241124.6:p.Asn230LysfsTer11
ENST00000400066.8:c.689dup	ENSP00000382939.3:p.Asn230LysfsTer11
ENST00000636852.1:c.689dup	ENSP00000489698.1:p.Asn230LysfsTer11
ENST00000643121.1:c.689dup	ENSP00000494468.1:p.Asn230LysfsTer11
ENST00000643211.1:c.689dup	ENSP00000495841.1:p.Asn230LysfsTer11
ENST00000644283.1:c.689dup	ENSP00000495320.1:p.Asn230LysfsTer11
ENST00000644667.1:c.689dup	ENSP00000493621.1:p.Asn230LysfsTer11
ENST00000647029.1:c.689dup MANE Select	ENSP00000493834.1:p.Asn230LysfsTer11
ENST00000647243.1:c.689dup	ENSP00000494733.1:p.Asn230LysfsTer11
ENST00000241124.10:c.689dup	ENSP00000241124.6:p.Asn230LysfsTer11
ENST00000356192.6:c.689dup	ENSP00000348521.6:p.Asn230LysfsTer11
ENST00000400065.7:c.689dup	ENSP00000382938.3:p.Asn230LysfsTer11
ENST00000400066.7:c.689dup	ENSP00000382939.3:p.Asn230LysfsTer11
NM_001110219.2:c.689dup	NP_001103689.1:p.Asn230LysfsTer11
NM_001110220.2:c.689dup	NP_001103690.1:p.Asn230LysfsTer11
NM_001110221.2:c.689dup	NP_001103691.1:p.Asn230LysfsTer11
NM_006783.4:c.689dup	NP_006774.2:p.Asn230LysfsTer11
NM_001110219.3:c.689dup MANE Select	NP_001103689.1:p.Asn230LysfsTer11
NM_001370090.1:c.689dup	NP_001357019.1:p.Asn230LysfsTer11
NM_001370091.1:c.689dup	NP_001357020.1:p.Asn230LysfsTer11
NM_001370092.1:c.689dup	NP_001357021.1:p.Asn230LysfsTer11
NM_001110220.3:c.689dup	NP_001103690.1:p.Asn230LysfsTer11
NM_001110221.3:c.689dup	NP_001103691.1:p.Asn230LysfsTer11
NM_006783.5:c.689dup	NP_006774.2:p.Asn230LysfsTer11