Canonical Allele Identifier: CA696357510

Gene: GJB6

Linked Data

• dbSNP Id: rs1242922499
• gnomAD v3: 13-20223128-A-ATGTCTT
• gnomAD v4: 13-20223128-A-ATGTCTT
• MyVariant Identifiers: chr13:g.20797267_20797268insTGTCTT (hg19) ; chr13:g.20223128_20223129insTGTCTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20223131_20223136dup , CM000675.2:g.20223131_20223136dup	GRCh38
NC_000013.10:g.20797270_20797275dup , CM000675.1:g.20797270_20797275dup	GRCh37
NC_000013.9:g.19695270_19695275dup	NCBI36
NG_008323.1:g.14262_14267dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241124.11:c.347_352dup	ENSP00000241124.6:p.Asp117_Ile118insLysAsp
ENST00000400066.8:c.347_352dup	ENSP00000382939.3:p.Asp117_Ile118insLysAsp
ENST00000636852.1:c.347_352dup	ENSP00000489698.1:p.Asp117_Ile118insLysAsp
ENST00000643121.1:c.347_352dup	ENSP00000494468.1:p.Asp117_Ile118insLysAsp
ENST00000643211.1:c.347_352dup	ENSP00000495841.1:p.Asp117_Ile118insLysAsp
ENST00000644283.1:c.347_352dup	ENSP00000495320.1:p.Asp117_Ile118insLysAsp
ENST00000644667.1:c.347_352dup	ENSP00000493621.1:p.Asp117_Ile118insLysAsp
ENST00000647029.1:c.347_352dup MANE Select	ENSP00000493834.1:p.Asp117_Ile118insLysAsp
ENST00000647243.1:c.347_352dup	ENSP00000494733.1:p.Asp117_Ile118insLysAsp
ENST00000241124.10:c.347_352dup	ENSP00000241124.6:p.Asp117_Ile118insLysAsp
ENST00000356192.6:c.347_352dup	ENSP00000348521.6:p.Asp117_Ile118insLysAsp
ENST00000400065.7:c.347_352dup	ENSP00000382938.3:p.Asp117_Ile118insLysAsp
ENST00000400066.7:c.347_352dup	ENSP00000382939.3:p.Asp117_Ile118insLysAsp
NM_001110219.2:c.347_352dup	NP_001103689.1:p.Asp117_Ile118insLysAsp
NM_001110220.2:c.347_352dup	NP_001103690.1:p.Asp117_Ile118insLysAsp
NM_001110221.2:c.347_352dup	NP_001103691.1:p.Asp117_Ile118insLysAsp
NM_006783.4:c.347_352dup	NP_006774.2:p.Asp117_Ile118insLysAsp
NM_001110219.3:c.347_352dup MANE Select	NP_001103689.1:p.Asp117_Ile118insLysAsp
NM_001370090.1:c.347_352dup	NP_001357019.1:p.Asp117_Ile118insLysAsp
NM_001370091.1:c.347_352dup	NP_001357020.1:p.Asp117_Ile118insLysAsp
NM_001370092.1:c.347_352dup	NP_001357021.1:p.Asp117_Ile118insLysAsp
NM_001110220.3:c.347_352dup	NP_001103690.1:p.Asp117_Ile118insLysAsp
NM_001110221.3:c.347_352dup	NP_001103691.1:p.Asp117_Ile118insLysAsp
NM_006783.5:c.347_352dup	NP_006774.2:p.Asp117_Ile118insLysAsp