Canonical Allele Identifier: CA860983532
Gene: KCNT1 HGNC NCBI

Linked Data

dbSNP Id: rs1434089856

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.135765676_135765687dup , CM000671.2:g.135765676_135765687dup GRCh38
NC_000009.11:g.138657522_138657533dup , CM000671.1:g.138657522_138657533dup GRCh37
NC_000009.10:g.137797343_137797354dup NCBI36
NG_033070.1:g.68492_68503dup

Transcript Alleles

HGVS Amino-acid change
ENST00000371757.7:c.1253_1264dup MANE Select ENSP00000360822.2:p.Gln421_Ile422insArgVa...
ENST00000674572.1:c.1094_1105dup ENSP00000501742.1:p.Gln368_Ile369insArgVa...
ENST00000675090.1:c.1001_1012dup ENSP00000501833.1:p.Gln337_Ile338insArgVa...
ENST00000675399.1:c.1001_1012dup ENSP00000501932.1:p.Gln337_Ile338insArgVa...
ENST00000676421.1:c.1010_1021dup ENSP00000502322.1:p.Gln340_Ile341insArgVa...
ENST00000263604.5:c.1154_1165dup ENSP00000263604.4:p.Gln388_Ile389insArgVa...
ENST00000371757.6:c.1253_1264dup ENSP00000360822.2:p.Gln421_Ile422insArgVa...
ENST00000460750.5:c.*863_*874dup ENSP00000418777.1:n.*863_*874dup
ENST00000486577.6:c.1136_1147dup ENSP00000417578.3:p.Gln382_Ile383insArgVa...
ENST00000487664.5:c.1253_1264dup ENSP00000417851.2:p.Gln421_Ile422insArgVa...
ENST00000488444.6:c.1196_1207dup ENSP00000419007.3:p.Gln402_Ile403insArgVa...
ENST00000490355.6:c.1196_1207dup ENSP00000418003.3:p.Gln402_Ile403insArgVa...
ENST00000490363.3:n.1072_1083dup
ENST00000491806.6:c.1196_1207dup ENSP00000419086.3:p.Gln402_Ile403insArgVa...
ENST00000628528.2:c.1118_1129dup ENSP00000486374.1:p.Gln376_Ile377insArgVa...
ENST00000630792.2:c.1094_1105dup ENSP00000486486.1:p.Gln368_Ile369insArgVa...
ENST00000631073.2:c.1196_1207dup ENSP00000486130.1:p.Gln402_Ile403insArgVa...
NM_001272003.1:c.1118_1129dup NP_001258932.1:p.Gln376_Ile377insArgValLe...
NM_020822.2:c.1253_1264dup NP_065873.2:p.Gln421_Ile422insArgValLeuGl...
XM_011518877.1:c.1388_1399dup XP_011517179.1:p.Gln466_Ile467insArgValLe...
XM_011518878.1:c.1397_1408dup XP_011517180.1:p.Gln469_Ile470insArgValLe...
XM_011518879.1:c.1388_1399dup XP_011517181.1:p.Gln466_Ile467insArgValLe...
XM_011518880.1:c.1154_1165dup XP_011517182.1:p.Gln388_Ile389insArgValLe...
XM_011518881.1:c.743_754dup XP_011517183.1:p.Gln251_Ile252insArgValLe...
XM_011518877.3:c.1388_1399dup XP_011517179.1:p.Gln466_Ile467insArgValLe...
XM_011518878.3:c.1397_1408dup XP_011517180.1:p.Gln469_Ile470insArgValLe...
XM_011518879.3:c.1388_1399dup XP_011517181.1:p.Gln466_Ile467insArgValLe...
XM_011518881.3:c.743_754dup XP_011517183.1:p.Gln251_Ile252insArgValLe...
XM_017014931.1:c.1187_1198dup XP_016870420.1:p.Gln399_Ile400insArgValLe...
XM_017014932.1:c.1010_1021dup XP_016870421.1:p.Gln340_Ile341insArgValLe...
XM_017014933.1:c.743_754dup XP_016870422.1:p.Gln251_Ile252insArgValLe...
XM_024447617.1:c.743_754dup XP_024303385.1:p.Gln251_Ile252insArgValLe...
XM_024447618.1:c.743_754dup XP_024303386.1:p.Gln251_Ile252insArgValLe...
NM_020822.3:c.1253_1264dup MANE Select NP_065873.2:p.Gln421_Ile422insArgValLeuGl...
NM_001272003.2:c.1118_1129dup NP_001258932.1:p.Gln376_Ile377insArgValLe...