Canonical Allele Identifier: CA1883866915
Gene: KCNT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.135766058_135766142delinsGGTGGACCATCTGGGGTGGACCATCTAGGATGGACTGTCTGGGGTGGACCATTCAGGGTAGACCTTCTGGGATGGACCATTTAGT , CM000671.2:g.135766058_135766142delinsGGTGGACCATCTGGGGTGGACCATCTAGGATGGACTGTCTGGGGTGGACCATTCAGGGTAGACCTTCTGGGATGGACCATTTAGT GRCh38
NC_000009.11:g.138657904_138657988delinsGGTGGACCATCTGGGGTGGACCATCTAGGATGGACTGTCTGGGGTGGACCATTCAGGGTAGACCTTCTGGGATGGACCATTTAGT , CM000671.1:g.138657904_138657988delinsGGTGGACCATCTGGGGTGGACCATCTAGGATGGACTGTCTGGGGTGGACCATTCAGGGTAGACCTTCTGGGATGGACCATTTAGT GRCh37
NC_000009.10:g.137797725_137797809delinsGGTGGACCATCTGGGGTGGACCATCTAGGATGGACTGTCTGGGGTGGACCATTCAGGGTAGACCTTCTGGGATGGACCATTTAGT NCBI36
NG_033070.1:g.68874_68958delinsGGTGGACCATCTGGGGTGGACCATCTAGGATGGACTGTCTGGGGTGGACCATTCAGGGTAGACCTTCTGGGATGGACCATTTAGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000371757.7:c.1337+298_1337+382delinsGGTGGACCATCTGGGGTGGACCATCTAGGATGGACTGTCTGGGGTGGACCATTCAGGGTAGACCTTCTGGGATGGACCATTTAGT MANE Select ENSP00000360822.2:n.1337+298_1337+382delinsGGTGGACCATCTGGGGTG...
ENST00000636003.1:c.27+298_27+382delinsGGTGGACCATCTGGGGTGGACCATCTAGGATGGACTGTCTGGGGTGGACCATTCAGGGTAGACCTTCTGGGATGGACCATTTAGT
ENST00000636995.1:n.64+298_64+382delinsGGTGGACCATCTGGGGTGGACCATCTAGGATGGACTGTCTGGGGTGGACCATTCAGGGTAGACCTTCTGGGATGGACCATTTAGT
ENST00000637798.1:n.76+298_76+382delinsGGTGGACCATCTGGGGTGGACCATCTAGGATGGACTGTCTGGGGTGGACCATTCAGGGTAGACCTTCTGGGATGGACCATTTAGT
ENST00000674572.1:c.1178+298_1178+382delinsGGTGGACCATCTGGGGTGGACCATCTAGGATGGACTGTCTGGGGTGGACCATTCAGGGTAGACCTTCTGGGATGGACCATTTAGT ENSP00000501742.1:n.1178+298_1178+382delinsGGTGGACCATCTGGGGTG...
ENST00000675090.1:c.1085+298_1085+382delinsGGTGGACCATCTGGGGTGGACCATCTAGGATGGACTGTCTGGGGTGGACCATTCAGGGTAGACCTTCTGGGATGGACCATTTAGT ENSP00000501833.1:n.1085+298_1085+382delinsGGTGGACCATCTGGGGTG...
ENST00000675399.1:c.1085+298_1085+382delinsGGTGGACCATCTGGGGTGGACCATCTAGGATGGACTGTCTGGGGTGGACCATTCAGGGTAGACCTTCTGGGATGGACCATTTAGT ENSP00000501932.1:n.1085+298_1085+382delinsGGTGGACCATCTGGGGTG...
ENST00000676421.1:c.1094+298_1094+382delinsGGTGGACCATCTGGGGTGGACCATCTAGGATGGACTGTCTGGGGTGGACCATTCAGGGTAGACCTTCTGGGATGGACCATTTAGT ENSP00000502322.1:n.1094+298_1094+382delinsGGTGGACCATCTGGGGTG...
ENST00000263604.5:c.1238+298_1238+382delinsGGTGGACCATCTGGGGTGGACCATCTAGGATGGACTGTCTGGGGTGGACCATTCAGGGTAGACCTTCTGGGATGGACCATTTAGT ENSP00000263604.4:n.1238+298_1238+382delinsGGTGGACCATCTGGGGTG...
ENST00000371757.6:c.1337+298_1337+382delinsGGTGGACCATCTGGGGTGGACCATCTAGGATGGACTGTCTGGGGTGGACCATTCAGGGTAGACCTTCTGGGATGGACCATTTAGT ENSP00000360822.2:n.1337+298_1337+382delinsGGTGGACCATCTGGGGTG...
ENST00000460750.5:c.*947+298_*947+382delinsGGTGGACCATCTGGGGTGGACCATCTAGGATGGACTGTCTGGGGTGGACCATTCAGGGTAGACCTTCTGGGATGGACCATTTAGT ENSP00000418777.1:n.*947+298_*947+382delinsGGTGGACCATCTGGGGTG...
ENST00000486577.6:c.1220+298_1220+382delinsGGTGGACCATCTGGGGTGGACCATCTAGGATGGACTGTCTGGGGTGGACCATTCAGGGTAGACCTTCTGGGATGGACCATTTAGT ENSP00000417578.3:n.1220+298_1220+382delinsGGTGGACCATCTGGGGTG...
ENST00000487664.5:c.1337+298_1337+382delinsGGTGGACCATCTGGGGTGGACCATCTAGGATGGACTGTCTGGGGTGGACCATTCAGGGTAGACCTTCTGGGATGGACCATTTAGT ENSP00000417851.2:n.1337+298_1337+382delinsGGTGGACCATCTGGGGTG...
ENST00000488444.6:c.1280+298_1280+382delinsGGTGGACCATCTGGGGTGGACCATCTAGGATGGACTGTCTGGGGTGGACCATTCAGGGTAGACCTTCTGGGATGGACCATTTAGT ENSP00000419007.3:n.1280+298_1280+382delinsGGTGGACCATCTGGGGTG...
ENST00000490355.6:c.1280+298_1280+382delinsGGTGGACCATCTGGGGTGGACCATCTAGGATGGACTGTCTGGGGTGGACCATTCAGGGTAGACCTTCTGGGATGGACCATTTAGT ENSP00000418003.3:n.1280+298_1280+382delinsGGTGGACCATCTGGGGTG...
ENST00000490363.3:n.1156+298_1156+382delinsGGTGGACCATCTGGGGTGGACCATCTAGGATGGACTGTCTGGGGTGGACCATTCAGGGTAGACCTTCTGGGATGGACCATTTAGT
ENST00000491806.6:c.1280+298_1280+382delinsGGTGGACCATCTGGGGTGGACCATCTAGGATGGACTGTCTGGGGTGGACCATTCAGGGTAGACCTTCTGGGATGGACCATTTAGT ENSP00000419086.3:n.1280+298_1280+382delinsGGTGGACCATCTGGGGTG...
ENST00000628528.2:c.1202+298_1202+382delinsGGTGGACCATCTGGGGTGGACCATCTAGGATGGACTGTCTGGGGTGGACCATTCAGGGTAGACCTTCTGGGATGGACCATTTAGT ENSP00000486374.1:n.1202+298_1202+382delinsGGTGGACCATCTGGGGTG...
ENST00000630792.2:c.1178+298_1178+382delinsGGTGGACCATCTGGGGTGGACCATCTAGGATGGACTGTCTGGGGTGGACCATTCAGGGTAGACCTTCTGGGATGGACCATTTAGT ENSP00000486486.1:n.1178+298_1178+382delinsGGTGGACCATCTGGGGTG...
ENST00000631073.2:c.1280+298_1280+382delinsGGTGGACCATCTGGGGTGGACCATCTAGGATGGACTGTCTGGGGTGGACCATTCAGGGTAGACCTTCTGGGATGGACCATTTAGT ENSP00000486130.1:n.1280+298_1280+382delinsGGTGGACCATCTGGGGTG...
NM_001272003.1:c.1202+298_1202+382delinsGGTGGACCATCTGGGGTGGACCATCTAGGATGGACTGTCTGGGGTGGACCATTCAGGGTAGACCTTCTGGGATGGACCATTTAGT NP_001258932.1:n.1202+298_1202+382delinsGGTGGACCATCTGGGGTGGAC...
NM_020822.2:c.1337+298_1337+382delinsGGTGGACCATCTGGGGTGGACCATCTAGGATGGACTGTCTGGGGTGGACCATTCAGGGTAGACCTTCTGGGATGGACCATTTAGT NP_065873.2:n.1337+298_1337+382delinsGGTGGACCATCTGGGGTGGACCAT...
XM_011518877.1:c.1472+298_1472+382delinsGGTGGACCATCTGGGGTGGACCATCTAGGATGGACTGTCTGGGGTGGACCATTCAGGGTAGACCTTCTGGGATGGACCATTTAGT XP_011517179.1:n.1472+298_1472+382delinsGGTGGACCATCTGGGGTGGAC...
XM_011518878.1:c.1481+298_1481+382delinsGGTGGACCATCTGGGGTGGACCATCTAGGATGGACTGTCTGGGGTGGACCATTCAGGGTAGACCTTCTGGGATGGACCATTTAGT XP_011517180.1:n.1481+298_1481+382delinsGGTGGACCATCTGGGGTGGAC...
XM_011518879.1:c.1472+298_1472+382delinsGGTGGACCATCTGGGGTGGACCATCTAGGATGGACTGTCTGGGGTGGACCATTCAGGGTAGACCTTCTGGGATGGACCATTTAGT XP_011517181.1:n.1472+298_1472+382delinsGGTGGACCATCTGGGGTGGAC...
XM_011518880.1:c.1238+298_1238+382delinsGGTGGACCATCTGGGGTGGACCATCTAGGATGGACTGTCTGGGGTGGACCATTCAGGGTAGACCTTCTGGGATGGACCATTTAGT XP_011517182.1:n.1238+298_1238+382delinsGGTGGACCATCTGGGGTGGAC...
XM_011518881.1:c.827+298_827+382delinsGGTGGACCATCTGGGGTGGACCATCTAGGATGGACTGTCTGGGGTGGACCATTCAGGGTAGACCTTCTGGGATGGACCATTTAGT XP_011517183.1:n.827+298_827+382delinsGGTGGACCATCTGGGGTGGACCA...
XM_011518877.3:c.1472+298_1472+382delinsGGTGGACCATCTGGGGTGGACCATCTAGGATGGACTGTCTGGGGTGGACCATTCAGGGTAGACCTTCTGGGATGGACCATTTAGT XP_011517179.1:n.1472+298_1472+382delinsGGTGGACCATCTGGGGTGGAC...
XM_011518878.3:c.1481+298_1481+382delinsGGTGGACCATCTGGGGTGGACCATCTAGGATGGACTGTCTGGGGTGGACCATTCAGGGTAGACCTTCTGGGATGGACCATTTAGT XP_011517180.1:n.1481+298_1481+382delinsGGTGGACCATCTGGGGTGGAC...
XM_011518879.3:c.1472+298_1472+382delinsGGTGGACCATCTGGGGTGGACCATCTAGGATGGACTGTCTGGGGTGGACCATTCAGGGTAGACCTTCTGGGATGGACCATTTAGT XP_011517181.1:n.1472+298_1472+382delinsGGTGGACCATCTGGGGTGGAC...
XM_011518881.3:c.827+298_827+382delinsGGTGGACCATCTGGGGTGGACCATCTAGGATGGACTGTCTGGGGTGGACCATTCAGGGTAGACCTTCTGGGATGGACCATTTAGT XP_011517183.1:n.827+298_827+382delinsGGTGGACCATCTGGGGTGGACCA...
XM_017014931.1:c.1271+298_1271+382delinsGGTGGACCATCTGGGGTGGACCATCTAGGATGGACTGTCTGGGGTGGACCATTCAGGGTAGACCTTCTGGGATGGACCATTTAGT XP_016870420.1:n.1271+298_1271+382delinsGGTGGACCATCTGGGGTGGAC...
XM_017014932.1:c.1094+298_1094+382delinsGGTGGACCATCTGGGGTGGACCATCTAGGATGGACTGTCTGGGGTGGACCATTCAGGGTAGACCTTCTGGGATGGACCATTTAGT XP_016870421.1:n.1094+298_1094+382delinsGGTGGACCATCTGGGGTGGAC...
XM_017014933.1:c.827+298_827+382delinsGGTGGACCATCTGGGGTGGACCATCTAGGATGGACTGTCTGGGGTGGACCATTCAGGGTAGACCTTCTGGGATGGACCATTTAGT XP_016870422.1:n.827+298_827+382delinsGGTGGACCATCTGGGGTGGACCA...
XM_024447617.1:c.827+298_827+382delinsGGTGGACCATCTGGGGTGGACCATCTAGGATGGACTGTCTGGGGTGGACCATTCAGGGTAGACCTTCTGGGATGGACCATTTAGT XP_024303385.1:n.827+298_827+382delinsGGTGGACCATCTGGGGTGGACCA...
XM_024447618.1:c.827+298_827+382delinsGGTGGACCATCTGGGGTGGACCATCTAGGATGGACTGTCTGGGGTGGACCATTCAGGGTAGACCTTCTGGGATGGACCATTTAGT XP_024303386.1:n.827+298_827+382delinsGGTGGACCATCTGGGGTGGACCA...
NM_020822.3:c.1337+298_1337+382delinsGGTGGACCATCTGGGGTGGACCATCTAGGATGGACTGTCTGGGGTGGACCATTCAGGGTAGACCTTCTGGGATGGACCATTTAGT MANE Select NP_065873.2:n.1337+298_1337+382delinsGGTGGACCATCTGGGGTGGACCAT...
NM_001272003.2:c.1202+298_1202+382delinsGGTGGACCATCTGGGGTGGACCATCTAGGATGGACTGTCTGGGGTGGACCATTCAGGGTAGACCTTCTGGGATGGACCATTTAGT NP_001258932.1:n.1202+298_1202+382delinsGGTGGACCATCTGGGGTGGAC...