Canonical Allele Identifier: CA2786247700

Gene: KCNT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135775356_135775374dup , CM000671.2:g.135775356_135775374dup	GRCh38
NC_000009.11:g.138667202_138667220dup , CM000671.1:g.138667202_138667220dup	GRCh37
NC_000009.10:g.137807023_137807041dup	NCBI36
NG_033070.1:g.78172_78190dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.2290_2308dup MANE Select	ENSP00000360822.2:p.Leu770ProfsTer28
ENST00000674572.1:c.2131_2149dup	ENSP00000501742.1:p.Leu717ProfsTer28
ENST00000675090.1:c.2038_2056dup	ENSP00000501833.1:p.Leu686ProfsTer28
ENST00000675399.1:c.2038_2056dup	ENSP00000501932.1:p.Leu686ProfsTer28
ENST00000676421.1:c.2047_2065dup	ENSP00000502322.1:p.Leu689ProfsTer28
ENST00000263604.5:c.2191_2209dup	ENSP00000263604.4:p.Leu737ProfsTer28
ENST00000371757.6:c.2290_2308dup	ENSP00000360822.2:p.Leu770ProfsTer28
ENST00000460750.5:c.*1900_*1918dup	ENSP00000418777.1:n.*1900_*1918dup
ENST00000486577.6:c.2173_2191dup	ENSP00000417578.3:p.Leu731ProfsTer28
ENST00000487664.5:c.2290_2308dup	ENSP00000417851.2:p.Leu770ProfsTer28
ENST00000488444.6:c.2233_2251dup	ENSP00000419007.3:p.Leu751ProfsTer28
ENST00000490355.6:c.2227_2245dup	ENSP00000418003.3:p.Leu749ProfsTer28
ENST00000490363.3:n.2109_2127dup
ENST00000491806.6:c.2233_2251dup	ENSP00000419086.3:p.Leu751ProfsTer28
ENST00000628528.2:c.2155_2173dup	ENSP00000486374.1:p.Leu725ProfsTer28
ENST00000630792.2:c.2125_2143dup	ENSP00000486486.1:p.Leu715ProfsTer28
ENST00000631073.2:c.2233_2251dup	ENSP00000486130.1:p.Leu751ProfsTer28
ENST00000631193.1:c.139_157dup	ENSP00000486830.1:p.Leu53ProfsTer28
NM_001272003.1:c.2155_2173dup	NP_001258932.1:p.Leu725ProfsTer28
NM_020822.2:c.2290_2308dup	NP_065873.2:p.Leu770ProfsTer28
XM_011518877.1:c.2425_2443dup	XP_011517179.1:p.Leu815ProfsTer28
XM_011518878.1:c.2434_2452dup	XP_011517180.1:p.Leu818ProfsTer28
XM_011518879.1:c.2425_2443dup	XP_011517181.1:p.Leu815ProfsTer28
XM_011518880.1:c.2191_2209dup	XP_011517182.1:p.Leu737ProfsTer28
XM_011518881.1:c.1780_1798dup	XP_011517183.1:p.Leu600ProfsTer28
XM_011518877.3:c.2425_2443dup	XP_011517179.1:p.Leu815ProfsTer28
XM_011518878.3:c.2434_2452dup	XP_011517180.1:p.Leu818ProfsTer28
XM_011518879.3:c.2425_2443dup	XP_011517181.1:p.Leu815ProfsTer28
XM_011518881.3:c.1780_1798dup	XP_011517183.1:p.Leu600ProfsTer28
XM_017014931.1:c.2224_2242dup	XP_016870420.1:p.Leu748ProfsTer28
XM_017014932.1:c.2047_2065dup	XP_016870421.1:p.Leu689ProfsTer28
XM_017014933.1:c.1780_1798dup	XP_016870422.1:p.Leu600ProfsTer28
XM_024447617.1:c.1780_1798dup	XP_024303385.1:p.Leu600ProfsTer28
XM_024447618.1:c.1780_1798dup	XP_024303386.1:p.Leu600ProfsTer28
NM_020822.3:c.2290_2308dup MANE Select	NP_065873.2:p.Leu770ProfsTer28
NM_001272003.2:c.2155_2173dup	NP_001258932.1:p.Leu725ProfsTer28