Canonical Allele Identifier: CA608567835

Gene: GJB6

Linked Data

• dbSNP Id: rs56771888
• gnomAD v2: 13-20803931-TCCC-T
• gnomAD v3: 13-20229792-TCCC-T
• gnomAD v4: 13-20229792-TCCC-T
• MyVariant Identifiers: chr13:g.20803932_20803934del (hg19) ; chr13:g.20229793_20229795del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20229802_20229804del , CM000675.2:g.20229802_20229804del	GRCh38
NC_000013.10:g.20803941_20803943del , CM000675.1:g.20803941_20803943del	GRCh37
NC_000013.9:g.19701941_19701943del	NCBI36
NG_008323.1:g.7601_7603del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241124.11:c.-185-46_-185-44del	ENSP00000241124.6:n.-185-46_-185-44del
ENST00000400066.8:c.-185-46_-185-44del	ENSP00000382939.3:n.-185-46_-185-44del
ENST00000642251.1:c.-186+39_-186+41del	ENSP00000495437.1:n.-186+39_-186+41del
ENST00000643121.1:c.-185-46_-185-44del	ENSP00000494468.1:n.-185-46_-185-44del
ENST00000643211.1:c.-185-46_-185-44del	ENSP00000495841.1:n.-185-46_-185-44del
ENST00000644236.1:c.-185-46_-185-44del	ENSP00000494122.1:n.-185-46_-185-44del
ENST00000644283.1:c.-185-46_-185-44del	ENSP00000495320.1:n.-185-46_-185-44del
ENST00000644667.1:c.-185-46_-185-44del	ENSP00000493621.1:n.-185-46_-185-44del
ENST00000646108.1:c.-206-25_-206-23del	ENSP00000493512.1:n.-206-25_-206-23del
ENST00000647029.1:c.-185-46_-185-44del MANE Select	ENSP00000493834.1:n.-185-46_-185-44del
ENST00000647243.1:c.-185-46_-185-44del	ENSP00000494733.1:n.-185-46_-185-44del
ENST00000241124.10:c.-185-46_-185-44del	ENSP00000241124.6:n.-185-46_-185-44del
ENST00000356192.6:c.-185-46_-185-44del	ENSP00000348521.6:n.-185-46_-185-44del
ENST00000400065.7:c.-185-46_-185-44del	ENSP00000382938.3:n.-185-46_-185-44del
ENST00000400066.7:c.-185-46_-185-44del	ENSP00000382939.3:n.-185-46_-185-44del
NM_001110219.2:c.-185-46_-185-44del	NP_001103689.1:n.-185-46_-185-44del
NM_001110220.2:c.-185-46_-185-44del	NP_001103690.1:n.-185-46_-185-44del
NM_001110221.2:c.-185-46_-185-44del	NP_001103691.1:n.-185-46_-185-44del
NM_006783.4:c.-185-46_-185-44del	NP_006774.2:n.-185-46_-185-44del
NM_001110219.3:c.-185-46_-185-44del MANE Select	NP_001103689.1:n.-185-46_-185-44del
NM_001370090.1:c.-185-46_-185-44del	NP_001357019.1:n.-185-46_-185-44del
NM_001370091.1:c.-185-46_-185-44del	NP_001357020.1:n.-185-46_-185-44del
NM_001370092.1:c.-185-46_-185-44del	NP_001357021.1:n.-185-46_-185-44del
NM_001110220.3:c.-185-46_-185-44del	NP_001103690.1:n.-185-46_-185-44del
NM_001110221.3:c.-185-46_-185-44del	NP_001103691.1:n.-185-46_-185-44del
NM_006783.5:c.-185-46_-185-44del	NP_006774.2:n.-185-46_-185-44del