Canonical Allele Identifier: CA1883866922
Gene: KCNT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.135766066_135766094delinsATCTGGGGTGGACCATCTAGGATGGACTG , CM000671.2:g.135766066_135766094delinsATCTGGGGTGGACCATCTAGGATGGACTG GRCh38
NC_000009.11:g.138657912_138657940delinsATCTGGGGTGGACCATCTAGGATGGACTG , CM000671.1:g.138657912_138657940delinsATCTGGGGTGGACCATCTAGGATGGACTG GRCh37
NC_000009.10:g.137797733_137797761delinsATCTGGGGTGGACCATCTAGGATGGACTG NCBI36
NG_033070.1:g.68882_68910delinsATCTGGGGTGGACCATCTAGGATGGACTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000371757.7:c.1337+306_1337+334delinsATCTGGGGTGGACCATCTAGGATGGACTG MANE Select ENSP00000360822.2:n.1337+306_1337+334delinsATCTGGGGTGGACCATCT...
ENST00000636003.1:c.27+306_27+334delinsATCTGGGGTGGACCATCTAGGATGGACTG
ENST00000636995.1:n.64+306_64+334delinsATCTGGGGTGGACCATCTAGGATGGACTG
ENST00000637798.1:n.76+306_76+334delinsATCTGGGGTGGACCATCTAGGATGGACTG
ENST00000674572.1:c.1178+306_1178+334delinsATCTGGGGTGGACCATCTAGGATGGACTG ENSP00000501742.1:n.1178+306_1178+334delinsATCTGGGGTGGACCATCT...
ENST00000675090.1:c.1085+306_1085+334delinsATCTGGGGTGGACCATCTAGGATGGACTG ENSP00000501833.1:n.1085+306_1085+334delinsATCTGGGGTGGACCATCT...
ENST00000675399.1:c.1085+306_1085+334delinsATCTGGGGTGGACCATCTAGGATGGACTG ENSP00000501932.1:n.1085+306_1085+334delinsATCTGGGGTGGACCATCT...
ENST00000676421.1:c.1094+306_1094+334delinsATCTGGGGTGGACCATCTAGGATGGACTG ENSP00000502322.1:n.1094+306_1094+334delinsATCTGGGGTGGACCATCT...
ENST00000263604.5:c.1238+306_1238+334delinsATCTGGGGTGGACCATCTAGGATGGACTG ENSP00000263604.4:n.1238+306_1238+334delinsATCTGGGGTGGACCATCT...
ENST00000371757.6:c.1337+306_1337+334delinsATCTGGGGTGGACCATCTAGGATGGACTG ENSP00000360822.2:n.1337+306_1337+334delinsATCTGGGGTGGACCATCT...
ENST00000460750.5:c.*947+306_*947+334delinsATCTGGGGTGGACCATCTAGGATGGACTG ENSP00000418777.1:n.*947+306_*947+334delinsATCTGGGGTGGACCATCT...
ENST00000486577.6:c.1220+306_1220+334delinsATCTGGGGTGGACCATCTAGGATGGACTG ENSP00000417578.3:n.1220+306_1220+334delinsATCTGGGGTGGACCATCT...
ENST00000487664.5:c.1337+306_1337+334delinsATCTGGGGTGGACCATCTAGGATGGACTG ENSP00000417851.2:n.1337+306_1337+334delinsATCTGGGGTGGACCATCT...
ENST00000488444.6:c.1280+306_1280+334delinsATCTGGGGTGGACCATCTAGGATGGACTG ENSP00000419007.3:n.1280+306_1280+334delinsATCTGGGGTGGACCATCT...
ENST00000490355.6:c.1280+306_1280+334delinsATCTGGGGTGGACCATCTAGGATGGACTG ENSP00000418003.3:n.1280+306_1280+334delinsATCTGGGGTGGACCATCT...
ENST00000490363.3:n.1156+306_1156+334delinsATCTGGGGTGGACCATCTAGGATGGACTG
ENST00000491806.6:c.1280+306_1280+334delinsATCTGGGGTGGACCATCTAGGATGGACTG ENSP00000419086.3:n.1280+306_1280+334delinsATCTGGGGTGGACCATCT...
ENST00000628528.2:c.1202+306_1202+334delinsATCTGGGGTGGACCATCTAGGATGGACTG ENSP00000486374.1:n.1202+306_1202+334delinsATCTGGGGTGGACCATCT...
ENST00000630792.2:c.1178+306_1178+334delinsATCTGGGGTGGACCATCTAGGATGGACTG ENSP00000486486.1:n.1178+306_1178+334delinsATCTGGGGTGGACCATCT...
ENST00000631073.2:c.1280+306_1280+334delinsATCTGGGGTGGACCATCTAGGATGGACTG ENSP00000486130.1:n.1280+306_1280+334delinsATCTGGGGTGGACCATCT...
NM_001272003.1:c.1202+306_1202+334delinsATCTGGGGTGGACCATCTAGGATGGACTG NP_001258932.1:n.1202+306_1202+334delinsATCTGGGGTGGACCATCTAGG...
NM_020822.2:c.1337+306_1337+334delinsATCTGGGGTGGACCATCTAGGATGGACTG NP_065873.2:n.1337+306_1337+334delinsATCTGGGGTGGACCATCTAGGATG...
XM_011518877.1:c.1472+306_1472+334delinsATCTGGGGTGGACCATCTAGGATGGACTG XP_011517179.1:n.1472+306_1472+334delinsATCTGGGGTGGACCATCTAGG...
XM_011518878.1:c.1481+306_1481+334delinsATCTGGGGTGGACCATCTAGGATGGACTG XP_011517180.1:n.1481+306_1481+334delinsATCTGGGGTGGACCATCTAGG...
XM_011518879.1:c.1472+306_1472+334delinsATCTGGGGTGGACCATCTAGGATGGACTG XP_011517181.1:n.1472+306_1472+334delinsATCTGGGGTGGACCATCTAGG...
XM_011518880.1:c.1238+306_1238+334delinsATCTGGGGTGGACCATCTAGGATGGACTG XP_011517182.1:n.1238+306_1238+334delinsATCTGGGGTGGACCATCTAGG...
XM_011518881.1:c.827+306_827+334delinsATCTGGGGTGGACCATCTAGGATGGACTG XP_011517183.1:n.827+306_827+334delinsATCTGGGGTGGACCATCTAGGAT...
XM_011518877.3:c.1472+306_1472+334delinsATCTGGGGTGGACCATCTAGGATGGACTG XP_011517179.1:n.1472+306_1472+334delinsATCTGGGGTGGACCATCTAGG...
XM_011518878.3:c.1481+306_1481+334delinsATCTGGGGTGGACCATCTAGGATGGACTG XP_011517180.1:n.1481+306_1481+334delinsATCTGGGGTGGACCATCTAGG...
XM_011518879.3:c.1472+306_1472+334delinsATCTGGGGTGGACCATCTAGGATGGACTG XP_011517181.1:n.1472+306_1472+334delinsATCTGGGGTGGACCATCTAGG...
XM_011518881.3:c.827+306_827+334delinsATCTGGGGTGGACCATCTAGGATGGACTG XP_011517183.1:n.827+306_827+334delinsATCTGGGGTGGACCATCTAGGAT...
XM_017014931.1:c.1271+306_1271+334delinsATCTGGGGTGGACCATCTAGGATGGACTG XP_016870420.1:n.1271+306_1271+334delinsATCTGGGGTGGACCATCTAGG...
XM_017014932.1:c.1094+306_1094+334delinsATCTGGGGTGGACCATCTAGGATGGACTG XP_016870421.1:n.1094+306_1094+334delinsATCTGGGGTGGACCATCTAGG...
XM_017014933.1:c.827+306_827+334delinsATCTGGGGTGGACCATCTAGGATGGACTG XP_016870422.1:n.827+306_827+334delinsATCTGGGGTGGACCATCTAGGAT...
XM_024447617.1:c.827+306_827+334delinsATCTGGGGTGGACCATCTAGGATGGACTG XP_024303385.1:n.827+306_827+334delinsATCTGGGGTGGACCATCTAGGAT...
XM_024447618.1:c.827+306_827+334delinsATCTGGGGTGGACCATCTAGGATGGACTG XP_024303386.1:n.827+306_827+334delinsATCTGGGGTGGACCATCTAGGAT...
NM_020822.3:c.1337+306_1337+334delinsATCTGGGGTGGACCATCTAGGATGGACTG MANE Select NP_065873.2:n.1337+306_1337+334delinsATCTGGGGTGGACCATCTAGGATG...
NM_001272003.2:c.1202+306_1202+334delinsATCTGGGGTGGACCATCTAGGATGGACTG NP_001258932.1:n.1202+306_1202+334delinsATCTGGGGTGGACCATCTAGG...