Canonical Allele Identifier: CA1883866910
Gene: KCNT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.135766055_135766069delinsCAGGGTGGACCATCT , CM000671.2:g.135766055_135766069delinsCAGGGTGGACCATCT GRCh38
NC_000009.11:g.138657901_138657915delinsCAGGGTGGACCATCT , CM000671.1:g.138657901_138657915delinsCAGGGTGGACCATCT GRCh37
NC_000009.10:g.137797722_137797736delinsCAGGGTGGACCATCT NCBI36
NG_033070.1:g.68871_68885delinsCAGGGTGGACCATCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000371757.7:c.1337+295_1337+309delinsCAGGGTGGACCATCT MANE Select ENSP00000360822.2:n.1337+295_1337+309delinsCAGGGTGGACCATCT
ENST00000636003.1:c.27+295_27+309delinsCAGGGTGGACCATCT
ENST00000636995.1:n.64+295_64+309delinsCAGGGTGGACCATCT
ENST00000637798.1:n.76+295_76+309delinsCAGGGTGGACCATCT
ENST00000674572.1:c.1178+295_1178+309delinsCAGGGTGGACCATCT ENSP00000501742.1:n.1178+295_1178+309delinsCAGGGTGGACCATCT
ENST00000675090.1:c.1085+295_1085+309delinsCAGGGTGGACCATCT ENSP00000501833.1:n.1085+295_1085+309delinsCAGGGTGGACCATCT
ENST00000675399.1:c.1085+295_1085+309delinsCAGGGTGGACCATCT ENSP00000501932.1:n.1085+295_1085+309delinsCAGGGTGGACCATCT
ENST00000676421.1:c.1094+295_1094+309delinsCAGGGTGGACCATCT ENSP00000502322.1:n.1094+295_1094+309delinsCAGGGTGGACCATCT
ENST00000263604.5:c.1238+295_1238+309delinsCAGGGTGGACCATCT ENSP00000263604.4:n.1238+295_1238+309delinsCAGGGTGGACCATCT
ENST00000371757.6:c.1337+295_1337+309delinsCAGGGTGGACCATCT ENSP00000360822.2:n.1337+295_1337+309delinsCAGGGTGGACCATCT
ENST00000460750.5:c.*947+295_*947+309delinsCAGGGTGGACCATCT ENSP00000418777.1:n.*947+295_*947+309delinsCAGGGTGGACCATCT
ENST00000486577.6:c.1220+295_1220+309delinsCAGGGTGGACCATCT ENSP00000417578.3:n.1220+295_1220+309delinsCAGGGTGGACCATCT
ENST00000487664.5:c.1337+295_1337+309delinsCAGGGTGGACCATCT ENSP00000417851.2:n.1337+295_1337+309delinsCAGGGTGGACCATCT
ENST00000488444.6:c.1280+295_1280+309delinsCAGGGTGGACCATCT ENSP00000419007.3:n.1280+295_1280+309delinsCAGGGTGGACCATCT
ENST00000490355.6:c.1280+295_1280+309delinsCAGGGTGGACCATCT ENSP00000418003.3:n.1280+295_1280+309delinsCAGGGTGGACCATCT
ENST00000490363.3:n.1156+295_1156+309delinsCAGGGTGGACCATCT
ENST00000491806.6:c.1280+295_1280+309delinsCAGGGTGGACCATCT ENSP00000419086.3:n.1280+295_1280+309delinsCAGGGTGGACCATCT
ENST00000628528.2:c.1202+295_1202+309delinsCAGGGTGGACCATCT ENSP00000486374.1:n.1202+295_1202+309delinsCAGGGTGGACCATCT
ENST00000630792.2:c.1178+295_1178+309delinsCAGGGTGGACCATCT ENSP00000486486.1:n.1178+295_1178+309delinsCAGGGTGGACCATCT
ENST00000631073.2:c.1280+295_1280+309delinsCAGGGTGGACCATCT ENSP00000486130.1:n.1280+295_1280+309delinsCAGGGTGGACCATCT
NM_001272003.1:c.1202+295_1202+309delinsCAGGGTGGACCATCT NP_001258932.1:n.1202+295_1202+309delinsCAGGGTGGACCATCT
NM_020822.2:c.1337+295_1337+309delinsCAGGGTGGACCATCT NP_065873.2:n.1337+295_1337+309delinsCAGGGTGGACCATCT
XM_011518877.1:c.1472+295_1472+309delinsCAGGGTGGACCATCT XP_011517179.1:n.1472+295_1472+309delinsCAGGGTGGACCATCT
XM_011518878.1:c.1481+295_1481+309delinsCAGGGTGGACCATCT XP_011517180.1:n.1481+295_1481+309delinsCAGGGTGGACCATCT
XM_011518879.1:c.1472+295_1472+309delinsCAGGGTGGACCATCT XP_011517181.1:n.1472+295_1472+309delinsCAGGGTGGACCATCT
XM_011518880.1:c.1238+295_1238+309delinsCAGGGTGGACCATCT XP_011517182.1:n.1238+295_1238+309delinsCAGGGTGGACCATCT
XM_011518881.1:c.827+295_827+309delinsCAGGGTGGACCATCT XP_011517183.1:n.827+295_827+309delinsCAGGGTGGACCATCT
XM_011518877.3:c.1472+295_1472+309delinsCAGGGTGGACCATCT XP_011517179.1:n.1472+295_1472+309delinsCAGGGTGGACCATCT
XM_011518878.3:c.1481+295_1481+309delinsCAGGGTGGACCATCT XP_011517180.1:n.1481+295_1481+309delinsCAGGGTGGACCATCT
XM_011518879.3:c.1472+295_1472+309delinsCAGGGTGGACCATCT XP_011517181.1:n.1472+295_1472+309delinsCAGGGTGGACCATCT
XM_011518881.3:c.827+295_827+309delinsCAGGGTGGACCATCT XP_011517183.1:n.827+295_827+309delinsCAGGGTGGACCATCT
XM_017014931.1:c.1271+295_1271+309delinsCAGGGTGGACCATCT XP_016870420.1:n.1271+295_1271+309delinsCAGGGTGGACCATCT
XM_017014932.1:c.1094+295_1094+309delinsCAGGGTGGACCATCT XP_016870421.1:n.1094+295_1094+309delinsCAGGGTGGACCATCT
XM_017014933.1:c.827+295_827+309delinsCAGGGTGGACCATCT XP_016870422.1:n.827+295_827+309delinsCAGGGTGGACCATCT
XM_024447617.1:c.827+295_827+309delinsCAGGGTGGACCATCT XP_024303385.1:n.827+295_827+309delinsCAGGGTGGACCATCT
XM_024447618.1:c.827+295_827+309delinsCAGGGTGGACCATCT XP_024303386.1:n.827+295_827+309delinsCAGGGTGGACCATCT
NM_020822.3:c.1337+295_1337+309delinsCAGGGTGGACCATCT MANE Select NP_065873.2:n.1337+295_1337+309delinsCAGGGTGGACCATCT
NM_001272003.2:c.1202+295_1202+309delinsCAGGGTGGACCATCT NP_001258932.1:n.1202+295_1202+309delinsCAGGGTGGACCATCT