Canonical Allele Identifier: CA1883866907
Gene: KCNT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.135766051_135766093delinsCATCCAGGGTGGACCATCTGGGGTGGACCATCTAGGATGGACT , CM000671.2:g.135766051_135766093delinsCATCCAGGGTGGACCATCTGGGGTGGACCATCTAGGATGGACT GRCh38
NC_000009.11:g.138657897_138657939delinsCATCCAGGGTGGACCATCTGGGGTGGACCATCTAGGATGGACT , CM000671.1:g.138657897_138657939delinsCATCCAGGGTGGACCATCTGGGGTGGACCATCTAGGATGGACT GRCh37
NC_000009.10:g.137797718_137797760delinsCATCCAGGGTGGACCATCTGGGGTGGACCATCTAGGATGGACT NCBI36
NG_033070.1:g.68867_68909delinsCATCCAGGGTGGACCATCTGGGGTGGACCATCTAGGATGGACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000371757.7:c.1337+291_1337+333delinsCATCCAGGGTGGACCATCTGGGGTGGACCATCTAGGATGGACT MANE Select ENSP00000360822.2:n.1337+291_1337+333delinsCATCCAGGGTGGACCATC...
ENST00000636003.1:c.27+291_27+333delinsCATCCAGGGTGGACCATCTGGGGTGGACCATCTAGGATGGACT
ENST00000636995.1:n.64+291_64+333delinsCATCCAGGGTGGACCATCTGGGGTGGACCATCTAGGATGGACT
ENST00000637798.1:n.76+291_76+333delinsCATCCAGGGTGGACCATCTGGGGTGGACCATCTAGGATGGACT
ENST00000674572.1:c.1178+291_1178+333delinsCATCCAGGGTGGACCATCTGGGGTGGACCATCTAGGATGGACT ENSP00000501742.1:n.1178+291_1178+333delinsCATCCAGGGTGGACCATC...
ENST00000675090.1:c.1085+291_1085+333delinsCATCCAGGGTGGACCATCTGGGGTGGACCATCTAGGATGGACT ENSP00000501833.1:n.1085+291_1085+333delinsCATCCAGGGTGGACCATC...
ENST00000675399.1:c.1085+291_1085+333delinsCATCCAGGGTGGACCATCTGGGGTGGACCATCTAGGATGGACT ENSP00000501932.1:n.1085+291_1085+333delinsCATCCAGGGTGGACCATC...
ENST00000676421.1:c.1094+291_1094+333delinsCATCCAGGGTGGACCATCTGGGGTGGACCATCTAGGATGGACT ENSP00000502322.1:n.1094+291_1094+333delinsCATCCAGGGTGGACCATC...
ENST00000263604.5:c.1238+291_1238+333delinsCATCCAGGGTGGACCATCTGGGGTGGACCATCTAGGATGGACT ENSP00000263604.4:n.1238+291_1238+333delinsCATCCAGGGTGGACCATC...
ENST00000371757.6:c.1337+291_1337+333delinsCATCCAGGGTGGACCATCTGGGGTGGACCATCTAGGATGGACT ENSP00000360822.2:n.1337+291_1337+333delinsCATCCAGGGTGGACCATC...
ENST00000460750.5:c.*947+291_*947+333delinsCATCCAGGGTGGACCATCTGGGGTGGACCATCTAGGATGGACT ENSP00000418777.1:n.*947+291_*947+333delinsCATCCAGGGTGGACCATC...
ENST00000486577.6:c.1220+291_1220+333delinsCATCCAGGGTGGACCATCTGGGGTGGACCATCTAGGATGGACT ENSP00000417578.3:n.1220+291_1220+333delinsCATCCAGGGTGGACCATC...
ENST00000487664.5:c.1337+291_1337+333delinsCATCCAGGGTGGACCATCTGGGGTGGACCATCTAGGATGGACT ENSP00000417851.2:n.1337+291_1337+333delinsCATCCAGGGTGGACCATC...
ENST00000488444.6:c.1280+291_1280+333delinsCATCCAGGGTGGACCATCTGGGGTGGACCATCTAGGATGGACT ENSP00000419007.3:n.1280+291_1280+333delinsCATCCAGGGTGGACCATC...
ENST00000490355.6:c.1280+291_1280+333delinsCATCCAGGGTGGACCATCTGGGGTGGACCATCTAGGATGGACT ENSP00000418003.3:n.1280+291_1280+333delinsCATCCAGGGTGGACCATC...
ENST00000490363.3:n.1156+291_1156+333delinsCATCCAGGGTGGACCATCTGGGGTGGACCATCTAGGATGGACT
ENST00000491806.6:c.1280+291_1280+333delinsCATCCAGGGTGGACCATCTGGGGTGGACCATCTAGGATGGACT ENSP00000419086.3:n.1280+291_1280+333delinsCATCCAGGGTGGACCATC...
ENST00000628528.2:c.1202+291_1202+333delinsCATCCAGGGTGGACCATCTGGGGTGGACCATCTAGGATGGACT ENSP00000486374.1:n.1202+291_1202+333delinsCATCCAGGGTGGACCATC...
ENST00000630792.2:c.1178+291_1178+333delinsCATCCAGGGTGGACCATCTGGGGTGGACCATCTAGGATGGACT ENSP00000486486.1:n.1178+291_1178+333delinsCATCCAGGGTGGACCATC...
ENST00000631073.2:c.1280+291_1280+333delinsCATCCAGGGTGGACCATCTGGGGTGGACCATCTAGGATGGACT ENSP00000486130.1:n.1280+291_1280+333delinsCATCCAGGGTGGACCATC...
NM_001272003.1:c.1202+291_1202+333delinsCATCCAGGGTGGACCATCTGGGGTGGACCATCTAGGATGGACT NP_001258932.1:n.1202+291_1202+333delinsCATCCAGGGTGGACCATCTGG...
NM_020822.2:c.1337+291_1337+333delinsCATCCAGGGTGGACCATCTGGGGTGGACCATCTAGGATGGACT NP_065873.2:n.1337+291_1337+333delinsCATCCAGGGTGGACCATCTGGGGT...
XM_011518877.1:c.1472+291_1472+333delinsCATCCAGGGTGGACCATCTGGGGTGGACCATCTAGGATGGACT XP_011517179.1:n.1472+291_1472+333delinsCATCCAGGGTGGACCATCTGG...
XM_011518878.1:c.1481+291_1481+333delinsCATCCAGGGTGGACCATCTGGGGTGGACCATCTAGGATGGACT XP_011517180.1:n.1481+291_1481+333delinsCATCCAGGGTGGACCATCTGG...
XM_011518879.1:c.1472+291_1472+333delinsCATCCAGGGTGGACCATCTGGGGTGGACCATCTAGGATGGACT XP_011517181.1:n.1472+291_1472+333delinsCATCCAGGGTGGACCATCTGG...
XM_011518880.1:c.1238+291_1238+333delinsCATCCAGGGTGGACCATCTGGGGTGGACCATCTAGGATGGACT XP_011517182.1:n.1238+291_1238+333delinsCATCCAGGGTGGACCATCTGG...
XM_011518881.1:c.827+291_827+333delinsCATCCAGGGTGGACCATCTGGGGTGGACCATCTAGGATGGACT XP_011517183.1:n.827+291_827+333delinsCATCCAGGGTGGACCATCTGGGG...
XM_011518877.3:c.1472+291_1472+333delinsCATCCAGGGTGGACCATCTGGGGTGGACCATCTAGGATGGACT XP_011517179.1:n.1472+291_1472+333delinsCATCCAGGGTGGACCATCTGG...
XM_011518878.3:c.1481+291_1481+333delinsCATCCAGGGTGGACCATCTGGGGTGGACCATCTAGGATGGACT XP_011517180.1:n.1481+291_1481+333delinsCATCCAGGGTGGACCATCTGG...
XM_011518879.3:c.1472+291_1472+333delinsCATCCAGGGTGGACCATCTGGGGTGGACCATCTAGGATGGACT XP_011517181.1:n.1472+291_1472+333delinsCATCCAGGGTGGACCATCTGG...
XM_011518881.3:c.827+291_827+333delinsCATCCAGGGTGGACCATCTGGGGTGGACCATCTAGGATGGACT XP_011517183.1:n.827+291_827+333delinsCATCCAGGGTGGACCATCTGGGG...
XM_017014931.1:c.1271+291_1271+333delinsCATCCAGGGTGGACCATCTGGGGTGGACCATCTAGGATGGACT XP_016870420.1:n.1271+291_1271+333delinsCATCCAGGGTGGACCATCTGG...
XM_017014932.1:c.1094+291_1094+333delinsCATCCAGGGTGGACCATCTGGGGTGGACCATCTAGGATGGACT XP_016870421.1:n.1094+291_1094+333delinsCATCCAGGGTGGACCATCTGG...
XM_017014933.1:c.827+291_827+333delinsCATCCAGGGTGGACCATCTGGGGTGGACCATCTAGGATGGACT XP_016870422.1:n.827+291_827+333delinsCATCCAGGGTGGACCATCTGGGG...
XM_024447617.1:c.827+291_827+333delinsCATCCAGGGTGGACCATCTGGGGTGGACCATCTAGGATGGACT XP_024303385.1:n.827+291_827+333delinsCATCCAGGGTGGACCATCTGGGG...
XM_024447618.1:c.827+291_827+333delinsCATCCAGGGTGGACCATCTGGGGTGGACCATCTAGGATGGACT XP_024303386.1:n.827+291_827+333delinsCATCCAGGGTGGACCATCTGGGG...
NM_020822.3:c.1337+291_1337+333delinsCATCCAGGGTGGACCATCTGGGGTGGACCATCTAGGATGGACT MANE Select NP_065873.2:n.1337+291_1337+333delinsCATCCAGGGTGGACCATCTGGGGT...
NM_001272003.2:c.1202+291_1202+333delinsCATCCAGGGTGGACCATCTGGGGTGGACCATCTAGGATGGACT NP_001258932.1:n.1202+291_1202+333delinsCATCCAGGGTGGACCATCTGG...