Canonical Allele Identifier: CA2579511270

Gene: KCNT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135775381_135775382del , CM000671.2:g.135775381_135775382del	GRCh38
NC_000009.11:g.138667227_138667228del , CM000671.1:g.138667227_138667228del	GRCh37
NC_000009.10:g.137807048_137807049del	NCBI36
NG_033070.1:g.78197_78198del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.2315_2316del MANE Select	ENSP00000360822.2:p.Val772GlufsTer19
ENST00000674572.1:c.2156_2157del	ENSP00000501742.1:p.Val719GlufsTer19
ENST00000675090.1:c.2063_2064del	ENSP00000501833.1:p.Val688GlufsTer19
ENST00000675399.1:c.2063_2064del	ENSP00000501932.1:p.Val688GlufsTer19
ENST00000676421.1:c.2072_2073del	ENSP00000502322.1:p.Val691GlufsTer19
ENST00000263604.5:c.2216_2217del	ENSP00000263604.4:p.Val739GlufsTer19
ENST00000371757.6:c.2315_2316del	ENSP00000360822.2:p.Val772GlufsTer19
ENST00000460750.5:c.*1925_*1926del	ENSP00000418777.1:n.*1925_*1926del
ENST00000486577.6:c.2198_2199del	ENSP00000417578.3:p.Val733GlufsTer19
ENST00000487664.5:c.2315_2316del	ENSP00000417851.2:p.Val772GlufsTer19
ENST00000488444.6:c.2258_2259del	ENSP00000419007.3:p.Val753GlufsTer19
ENST00000490355.6:c.2252_2253del	ENSP00000418003.3:p.Val751GlufsTer19
ENST00000490363.3:n.2134_2135del
ENST00000491806.6:c.2258_2259del	ENSP00000419086.3:p.Val753GlufsTer19
ENST00000628528.2:c.2180_2181del	ENSP00000486374.1:p.Val727GlufsTer19
ENST00000630792.2:c.2150_2151del	ENSP00000486486.1:p.Val717GlufsTer19
ENST00000631073.2:c.2258_2259del	ENSP00000486130.1:p.Val753GlufsTer19
ENST00000631193.1:c.164_165del	ENSP00000486830.1:p.Val55GlufsTer19
NM_001272003.1:c.2180_2181del	NP_001258932.1:p.Val727GlufsTer19
NM_020822.2:c.2315_2316del	NP_065873.2:p.Val772GlufsTer19
XM_011518877.1:c.2450_2451del	XP_011517179.1:p.Val817GlufsTer19
XM_011518878.1:c.2459_2460del	XP_011517180.1:p.Val820GlufsTer19
XM_011518879.1:c.2450_2451del	XP_011517181.1:p.Val817GlufsTer19
XM_011518880.1:c.2216_2217del	XP_011517182.1:p.Val739GlufsTer19
XM_011518881.1:c.1805_1806del	XP_011517183.1:p.Val602GlufsTer19
XM_011518877.3:c.2450_2451del	XP_011517179.1:p.Val817GlufsTer19
XM_011518878.3:c.2459_2460del	XP_011517180.1:p.Val820GlufsTer19
XM_011518879.3:c.2450_2451del	XP_011517181.1:p.Val817GlufsTer19
XM_011518881.3:c.1805_1806del	XP_011517183.1:p.Val602GlufsTer19
XM_017014931.1:c.2249_2250del	XP_016870420.1:p.Val750GlufsTer19
XM_017014932.1:c.2072_2073del	XP_016870421.1:p.Val691GlufsTer19
XM_017014933.1:c.1805_1806del	XP_016870422.1:p.Val602GlufsTer19
XM_024447617.1:c.1805_1806del	XP_024303385.1:p.Val602GlufsTer19
XM_024447618.1:c.1805_1806del	XP_024303386.1:p.Val602GlufsTer19
NM_020822.3:c.2315_2316del MANE Select	NP_065873.2:p.Val772GlufsTer19
NM_001272003.2:c.2180_2181del	NP_001258932.1:p.Val727GlufsTer19