Canonical Allele Identifier: CA2077166027
Gene: GJB6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20231149_20231150delinsAT , CM000675.2:g.20231149_20231150delinsAT GRCh38
NC_000013.10:g.20805288_20805289delinsAT , CM000675.1:g.20805288_20805289delinsAT GRCh37
NC_000013.9:g.19703288_19703289delinsAT NCBI36
NG_008323.1:g.6246_6247delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000241124.11:c.-470_-469delinsAT ENSP00000241124.6:n.-470_-469delinsAT
ENST00000400066.8:c.-186+232_-186+233delinsAT ENSP00000382939.3:n.-186+232_-186+233delinsAT
ENST00000643121.1:c.-381-89_-381-88delinsAT ENSP00000494468.1:n.-381-89_-381-88delinsAT
ENST00000643211.1:c.-302+232_-302+233delinsAT ENSP00000495841.1:n.-302+232_-302+233delinsAT
ENST00000644236.1:c.-258+232_-258+233delinsAT ENSP00000494122.1:n.-258+232_-258+233delinsAT
ENST00000644283.1:c.-186+232_-186+233delinsAT ENSP00000495320.1:n.-186+232_-186+233delinsAT
ENST00000647029.1:c.-296+232_-296+233delinsAT MANE Select ENSP00000493834.1:n.-296+232_-296+233delinsAT
ENST00000647243.1:c.-296+232_-296+233delinsAT ENSP00000494733.1:n.-296+232_-296+233delinsAT
ENST00000356192.6:c.-296+232_-296+233delinsAT ENSP00000348521.6:n.-296+232_-296+233delinsAT
ENST00000400065.7:c.-186+1044_-186+1045delinsAT ENSP00000382938.3:n.-186+1044_-186+1045delinsAT
ENST00000400066.7:c.-186+232_-186+233delinsAT ENSP00000382939.3:n.-186+232_-186+233delinsAT
NM_001110219.2:c.-296+232_-296+233delinsAT NP_001103689.1:n.-296+232_-296+233delinsAT
NM_001110220.2:c.-186+232_-186+233delinsAT NP_001103690.1:n.-186+232_-186+233delinsAT
NM_001110221.2:c.-186+1044_-186+1045delinsAT NP_001103691.1:n.-186+1044_-186+1045delinsAT
NM_006783.4:c.-470_-469delinsAT NP_006774.2:n.-470_-469delinsAT
NM_001110219.3:c.-296+232_-296+233delinsAT MANE Select NP_001103689.1:n.-296+232_-296+233delinsAT
NM_001370090.1:c.-302+232_-302+233delinsAT NP_001357019.1:n.-302+232_-302+233delinsAT
NM_001370091.1:c.-186+232_-186+233delinsAT NP_001357020.1:n.-186+232_-186+233delinsAT
NM_001370092.1:c.-296+232_-296+233delinsAT NP_001357021.1:n.-296+232_-296+233delinsAT
NM_001110220.3:c.-186+232_-186+233delinsAT NP_001103690.1:n.-186+232_-186+233delinsAT
NM_001110221.3:c.-186+1044_-186+1045delinsAT NP_001103691.1:n.-186+1044_-186+1045delinsAT