Canonical Allele Identifier: CA1883866796
Gene: KCNT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.135765890_135765891delinsAG , CM000671.2:g.135765890_135765891delinsAG GRCh38
NC_000009.11:g.138657736_138657737delinsAG , CM000671.1:g.138657736_138657737delinsAG GRCh37
NC_000009.10:g.137797557_137797558delinsAG NCBI36
NG_033070.1:g.68706_68707delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000371757.7:c.1337+130_1337+131delinsAG MANE Select ENSP00000360822.2:n.1337+130_1337+131delinsAG
ENST00000636003.1:c.27+130_27+131delinsAG
ENST00000636995.1:n.64+130_64+131delinsAG
ENST00000637798.1:n.76+130_76+131delinsAG
ENST00000674572.1:c.1178+130_1178+131delinsAG ENSP00000501742.1:n.1178+130_1178+131delinsAG
ENST00000675090.1:c.1085+130_1085+131delinsAG ENSP00000501833.1:n.1085+130_1085+131delinsAG
ENST00000675399.1:c.1085+130_1085+131delinsAG ENSP00000501932.1:n.1085+130_1085+131delinsAG
ENST00000676421.1:c.1094+130_1094+131delinsAG ENSP00000502322.1:n.1094+130_1094+131delinsAG
ENST00000263604.5:c.1238+130_1238+131delinsAG ENSP00000263604.4:n.1238+130_1238+131delinsAG
ENST00000371757.6:c.1337+130_1337+131delinsAG ENSP00000360822.2:n.1337+130_1337+131delinsAG
ENST00000460750.5:c.*947+130_*947+131delinsAG ENSP00000418777.1:n.*947+130_*947+131delinsAG
ENST00000486577.6:c.1220+130_1220+131delinsAG ENSP00000417578.3:n.1220+130_1220+131delinsAG
ENST00000487664.5:c.1337+130_1337+131delinsAG ENSP00000417851.2:n.1337+130_1337+131delinsAG
ENST00000488444.6:c.1280+130_1280+131delinsAG ENSP00000419007.3:n.1280+130_1280+131delinsAG
ENST00000490355.6:c.1280+130_1280+131delinsAG ENSP00000418003.3:n.1280+130_1280+131delinsAG
ENST00000490363.3:n.1156+130_1156+131delinsAG
ENST00000491806.6:c.1280+130_1280+131delinsAG ENSP00000419086.3:n.1280+130_1280+131delinsAG
ENST00000628528.2:c.1202+130_1202+131delinsAG ENSP00000486374.1:n.1202+130_1202+131delinsAG
ENST00000630792.2:c.1178+130_1178+131delinsAG ENSP00000486486.1:n.1178+130_1178+131delinsAG
ENST00000631073.2:c.1280+130_1280+131delinsAG ENSP00000486130.1:n.1280+130_1280+131delinsAG
NM_001272003.1:c.1202+130_1202+131delinsAG NP_001258932.1:n.1202+130_1202+131delinsAG
NM_020822.2:c.1337+130_1337+131delinsAG NP_065873.2:n.1337+130_1337+131delinsAG
XM_011518877.1:c.1472+130_1472+131delinsAG XP_011517179.1:n.1472+130_1472+131delinsAG
XM_011518878.1:c.1481+130_1481+131delinsAG XP_011517180.1:n.1481+130_1481+131delinsAG
XM_011518879.1:c.1472+130_1472+131delinsAG XP_011517181.1:n.1472+130_1472+131delinsAG
XM_011518880.1:c.1238+130_1238+131delinsAG XP_011517182.1:n.1238+130_1238+131delinsAG
XM_011518881.1:c.827+130_827+131delinsAG XP_011517183.1:n.827+130_827+131delinsAG
XM_011518877.3:c.1472+130_1472+131delinsAG XP_011517179.1:n.1472+130_1472+131delinsAG
XM_011518878.3:c.1481+130_1481+131delinsAG XP_011517180.1:n.1481+130_1481+131delinsAG
XM_011518879.3:c.1472+130_1472+131delinsAG XP_011517181.1:n.1472+130_1472+131delinsAG
XM_011518881.3:c.827+130_827+131delinsAG XP_011517183.1:n.827+130_827+131delinsAG
XM_017014931.1:c.1271+130_1271+131delinsAG XP_016870420.1:n.1271+130_1271+131delinsAG
XM_017014932.1:c.1094+130_1094+131delinsAG XP_016870421.1:n.1094+130_1094+131delinsAG
XM_017014933.1:c.827+130_827+131delinsAG XP_016870422.1:n.827+130_827+131delinsAG
XM_024447617.1:c.827+130_827+131delinsAG XP_024303385.1:n.827+130_827+131delinsAG
XM_024447618.1:c.827+130_827+131delinsAG XP_024303386.1:n.827+130_827+131delinsAG
NM_020822.3:c.1337+130_1337+131delinsAG MANE Select NP_065873.2:n.1337+130_1337+131delinsAG
NM_001272003.2:c.1202+130_1202+131delinsAG NP_001258932.1:n.1202+130_1202+131delinsAG