Canonical Allele Identifier: CA2276804678
Gene: TMC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.78114408_78114409delinsTC , CM000679.2:g.78114408_78114409delinsTC GRCh38
NC_000017.10:g.76110489_76110490delinsTC , CM000679.1:g.76110489_76110490delinsTC GRCh37
NC_000017.9:g.73622084_73622085delinsTC NCBI36
NG_007879.1:g.22999_23000delinsGA , LRG_118:g.22999_23000delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000589271.6:c.2278-785_2278-784delinsGA ENSP00000468255.2:n.2278-785_2278-784delinsGA
ENST00000590494.2:n.707_708delinsGA
ENST00000592063.6:c.2278-785_2278-784delinsGA ENSP00000466885.2:n.2278-785_2278-784delinsGA
ENST00000698544.1:n.74-785_74-784delinsGA
ENST00000698545.1:n.1755-785_1755-784delinsGA
ENST00000698546.1:c.*2100-785_*2100-784delinsGA ENSP00000513789.1:n.*2100-785_*2100-784delinsGA
ENST00000698547.1:c.*1596-785_*1596-784delinsGA ENSP00000513790.1:n.*1596-785_*1596-784delinsGA
ENST00000698548.1:c.2098-785_2098-784delinsGA ENSP00000513791.1:n.2098-785_2098-784delinsGA
ENST00000698549.1:c.*2100-785_*2100-784delinsGA ENSP00000513792.1:n.*2100-785_*2100-784delinsGA
ENST00000698550.1:c.2278-785_2278-784delinsGA ENSP00000513793.1:n.2278-785_2278-784delinsGA
ENST00000698551.1:c.2144-785_2144-784delinsGA ENSP00000513794.1:n.2144-785_2144-784delinsGA
ENST00000590602.6:c.2278-785_2278-784delinsGA MANE Select ENSP00000465261.1:n.2278-785_2278-784delinsGA
ENST00000306591.11:c.1228-788_1228-787delinsGA ENSP00000306405.6:n.1228-788_1228-787delinsGA
ENST00000322914.7:c.2278-785_2278-784delinsGA ENSP00000313408.2:n.2278-785_2278-784delinsGA
ENST00000392467.7:c.2278-785_2278-784delinsGA ENSP00000376260.2:n.2278-785_2278-784delinsGA
ENST00000590602.5:c.2278-785_2278-784delinsGA ENSP00000465261.1:n.2278-785_2278-784delinsGA
ENST00000591436.5:c.1015-785_1015-784delinsGA ENSP00000464853.1:n.1015-785_1015-784delinsGA
ENST00000592076.5:n.324-785_324-784delinsGA
ENST00000593044.5:n.2858-785_2858-784delinsGA
NM_001127198.1:c.2278-785_2278-784delinsGA NP_001120670.1:n.2278-785_2278-784delinsGA
NM_007267.6:c.2278-785_2278-784delinsGA , LRG_118t1:c.2278-785_2278-784delinsGA NP_009198.4:n.2278-785_2278-784delinsGA
XM_005256995.1:c.2278-785_2278-784delinsGA XP_005257052.1:n.2278-785_2278-784delinsGA
XM_005256996.1:c.2278-785_2278-784delinsGA XP_005257053.1:n.2278-785_2278-784delinsGA
XM_005256997.1:c.2098-785_2098-784delinsGA XP_005257054.1:n.2098-785_2098-784delinsGA
XM_005256998.1:c.1597-785_1597-784delinsGA XP_005257055.1:n.1597-785_1597-784delinsGA
XM_011524255.1:c.2278-785_2278-784delinsGA XP_011522557.1:n.2278-785_2278-784delinsGA
XM_011524256.1:c.2152-785_2152-784delinsGA XP_011522558.1:n.2152-785_2152-784delinsGA
XM_011524257.1:c.1468-785_1468-784delinsGA XP_011522559.1:n.1468-785_1468-784delinsGA
XM_011524258.1:c.1228-785_1228-784delinsGA XP_011522560.1:n.1228-785_1228-784delinsGA
XR_243632.1:n.2332-785_2332-784delinsGA
NM_001127198.2:c.2278-785_2278-784delinsGA NP_001120670.1:n.2278-785_2278-784delinsGA
NM_001321185.1:c.2278-785_2278-784delinsGA NP_001308114.1:n.2278-785_2278-784delinsGA
NM_007267.7:c.2278-785_2278-784delinsGA NP_009198.4:n.2278-785_2278-784delinsGA
XM_011524257.3:c.1468-785_1468-784delinsGA XP_011522559.1:n.1468-785_1468-784delinsGA
XM_017024107.1:c.2098-785_2098-784delinsGA XP_016879596.1:n.2098-785_2098-784delinsGA
XM_017024108.1:c.2098-785_2098-784delinsGA XP_016879597.1:n.2098-785_2098-784delinsGA
XM_024450555.1:c.2278-785_2278-784delinsGA XP_024306323.1:n.2278-785_2278-784delinsGA
XM_024450556.1:c.2278-785_2278-784delinsGA XP_024306324.1:n.2278-785_2278-784delinsGA
XM_024450557.1:c.1597-785_1597-784delinsGA XP_024306325.1:n.1597-785_1597-784delinsGA
XR_001752420.1:n.2466-785_2466-784delinsGA
NM_001127198.5:c.2278-785_2278-784delinsGA MANE Select NP_001120670.1:n.2278-785_2278-784delinsGA
NM_001374593.1:c.2098-785_2098-784delinsGA NP_001361522.1:n.2098-785_2098-784delinsGA
NM_001374594.1:c.2098-785_2098-784delinsGA NP_001361523.1:n.2098-785_2098-784delinsGA
NM_001375353.1:c.2278-785_2278-784delinsGA NP_001362282.1:n.2278-785_2278-784delinsGA
NM_001375354.1:c.2278-785_2278-784delinsGA NP_001362283.1:n.2278-785_2278-784delinsGA
NM_001374596.1:c.2278-785_2278-784delinsGA NP_001361525.1:n.2278-785_2278-784delinsGA
NR_168288.1:n.2496-785_2496-784delinsGA
NR_168289.1:n.2496-785_2496-784delinsGA
NR_168290.1:n.2399-785_2399-784delinsGA
NR_168291.1:n.2449-785_2449-784delinsGA