Canonical Allele Identifier: CA1883866942
Gene: KCNT1 HGNC NCBI

Linked Data

dbSNP Id: rs1832257637

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.135766093_135766106del , CM000671.2:g.135766093_135766106del GRCh38
NC_000009.11:g.138657939_138657952del , CM000671.1:g.138657939_138657952del GRCh37
NC_000009.10:g.137797760_137797773del NCBI36
NG_033070.1:g.68909_68922del

Transcript Alleles

HGVS Amino-acid Change
ENST00000371757.7:c.1337+333_1337+346del MANE Select ENSP00000360822.2:n.1337+333_1337+346del
ENST00000636003.1:c.27+333_27+346del
ENST00000636995.1:n.64+333_64+346del
ENST00000637798.1:n.76+333_76+346del
ENST00000674572.1:c.1178+333_1178+346del ENSP00000501742.1:n.1178+333_1178+346del
ENST00000675090.1:c.1085+333_1085+346del ENSP00000501833.1:n.1085+333_1085+346del
ENST00000675399.1:c.1085+333_1085+346del ENSP00000501932.1:n.1085+333_1085+346del
ENST00000676421.1:c.1094+333_1094+346del ENSP00000502322.1:n.1094+333_1094+346del
ENST00000263604.5:c.1238+333_1238+346del ENSP00000263604.4:n.1238+333_1238+346del
ENST00000371757.6:c.1337+333_1337+346del ENSP00000360822.2:n.1337+333_1337+346del
ENST00000460750.5:c.*947+333_*947+346del ENSP00000418777.1:n.*947+333_*947+346del
ENST00000486577.6:c.1220+333_1220+346del ENSP00000417578.3:n.1220+333_1220+346del
ENST00000487664.5:c.1337+333_1337+346del ENSP00000417851.2:n.1337+333_1337+346del
ENST00000488444.6:c.1280+333_1280+346del ENSP00000419007.3:n.1280+333_1280+346del
ENST00000490355.6:c.1280+333_1280+346del ENSP00000418003.3:n.1280+333_1280+346del
ENST00000490363.3:n.1156+333_1156+346del
ENST00000491806.6:c.1280+333_1280+346del ENSP00000419086.3:n.1280+333_1280+346del
ENST00000628528.2:c.1202+333_1202+346del ENSP00000486374.1:n.1202+333_1202+346del
ENST00000630792.2:c.1178+333_1178+346del ENSP00000486486.1:n.1178+333_1178+346del
ENST00000631073.2:c.1280+333_1280+346del ENSP00000486130.1:n.1280+333_1280+346del
NM_001272003.1:c.1202+333_1202+346del NP_001258932.1:n.1202+333_1202+346del
NM_020822.2:c.1337+333_1337+346del NP_065873.2:n.1337+333_1337+346del
XM_011518877.1:c.1472+333_1472+346del XP_011517179.1:n.1472+333_1472+346del
XM_011518878.1:c.1481+333_1481+346del XP_011517180.1:n.1481+333_1481+346del
XM_011518879.1:c.1472+333_1472+346del XP_011517181.1:n.1472+333_1472+346del
XM_011518880.1:c.1238+333_1238+346del XP_011517182.1:n.1238+333_1238+346del
XM_011518881.1:c.827+333_827+346del XP_011517183.1:n.827+333_827+346del
XM_011518877.3:c.1472+333_1472+346del XP_011517179.1:n.1472+333_1472+346del
XM_011518878.3:c.1481+333_1481+346del XP_011517180.1:n.1481+333_1481+346del
XM_011518879.3:c.1472+333_1472+346del XP_011517181.1:n.1472+333_1472+346del
XM_011518881.3:c.827+333_827+346del XP_011517183.1:n.827+333_827+346del
XM_017014931.1:c.1271+333_1271+346del XP_016870420.1:n.1271+333_1271+346del
XM_017014932.1:c.1094+333_1094+346del XP_016870421.1:n.1094+333_1094+346del
XM_017014933.1:c.827+333_827+346del XP_016870422.1:n.827+333_827+346del
XM_024447617.1:c.827+333_827+346del XP_024303385.1:n.827+333_827+346del
XM_024447618.1:c.827+333_827+346del XP_024303386.1:n.827+333_827+346del
NM_020822.3:c.1337+333_1337+346del MANE Select NP_065873.2:n.1337+333_1337+346del
NM_001272003.2:c.1202+333_1202+346del NP_001258932.1:n.1202+333_1202+346del