Canonical Allele Identifier: CA1883884902

Gene: KCNT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135775375_135775385delinsTGCCTGTGAAA , CM000671.2:g.135775375_135775385delinsTGCCTGTGAAA	GRCh38
NC_000009.11:g.138667221_138667231delinsTGCCTGTGAAA , CM000671.1:g.138667221_138667231delinsTGCCTGTGAAA	GRCh37
NC_000009.10:g.137807042_137807052delinsTGCCTGTGAAA	NCBI36
NG_033070.1:g.78191_78201delinsTGCCTGTGAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.2309_2319delinsTGCCTGTGAAA MANE Select	ENSP00000360822.2:p.Leu770=
ENST00000674572.1:c.2150_2160delinsTGCCTGTGAAA	ENSP00000501742.1:p.Leu717=
ENST00000675090.1:c.2057_2067delinsTGCCTGTGAAA	ENSP00000501833.1:p.Leu686=
ENST00000675399.1:c.2057_2067delinsTGCCTGTGAAA	ENSP00000501932.1:p.Leu686=
ENST00000676421.1:c.2066_2076delinsTGCCTGTGAAA	ENSP00000502322.1:p.Leu689=
ENST00000263604.5:c.2210_2220delinsTGCCTGTGAAA	ENSP00000263604.4:p.Leu737=
ENST00000371757.6:c.2309_2319delinsTGCCTGTGAAA	ENSP00000360822.2:p.Leu770=
ENST00000460750.5:c.*1919_*1929delinsTGCCTGTGAAA	ENSP00000418777.1:n.*1919_*1929delinsTGCCTGTGAAA
ENST00000486577.6:c.2192_2202delinsTGCCTGTGAAA	ENSP00000417578.3:p.Leu731=
ENST00000487664.5:c.2309_2319delinsTGCCTGTGAAA	ENSP00000417851.2:p.Leu770=
ENST00000488444.6:c.2252_2262delinsTGCCTGTGAAA	ENSP00000419007.3:p.Leu751=
ENST00000490355.6:c.2246_2256delinsTGCCTGTGAAA	ENSP00000418003.3:p.Leu749=
ENST00000490363.3:n.2128_2138delinsTGCCTGTGAAA
ENST00000491806.6:c.2252_2262delinsTGCCTGTGAAA	ENSP00000419086.3:p.Leu751=
ENST00000628528.2:c.2174_2184delinsTGCCTGTGAAA	ENSP00000486374.1:p.Leu725=
ENST00000630792.2:c.2144_2154delinsTGCCTGTGAAA	ENSP00000486486.1:p.Leu715=
ENST00000631073.2:c.2252_2262delinsTGCCTGTGAAA	ENSP00000486130.1:p.Leu751=
ENST00000631193.1:c.158_168delinsTGCCTGTGAAA	ENSP00000486830.1:p.Leu53=
NM_001272003.1:c.2174_2184delinsTGCCTGTGAAA	NP_001258932.1:p.Leu725=
NM_020822.2:c.2309_2319delinsTGCCTGTGAAA	NP_065873.2:p.Leu770=
XM_011518877.1:c.2444_2454delinsTGCCTGTGAAA	XP_011517179.1:p.Leu815=
XM_011518878.1:c.2453_2463delinsTGCCTGTGAAA	XP_011517180.1:p.Leu818=
XM_011518879.1:c.2444_2454delinsTGCCTGTGAAA	XP_011517181.1:p.Leu815=
XM_011518880.1:c.2210_2220delinsTGCCTGTGAAA	XP_011517182.1:p.Leu737=
XM_011518881.1:c.1799_1809delinsTGCCTGTGAAA	XP_011517183.1:p.Leu600=
XM_011518877.3:c.2444_2454delinsTGCCTGTGAAA	XP_011517179.1:p.Leu815=
XM_011518878.3:c.2453_2463delinsTGCCTGTGAAA	XP_011517180.1:p.Leu818=
XM_011518879.3:c.2444_2454delinsTGCCTGTGAAA	XP_011517181.1:p.Leu815=
XM_011518881.3:c.1799_1809delinsTGCCTGTGAAA	XP_011517183.1:p.Leu600=
XM_017014931.1:c.2243_2253delinsTGCCTGTGAAA	XP_016870420.1:p.Leu748=
XM_017014932.1:c.2066_2076delinsTGCCTGTGAAA	XP_016870421.1:p.Leu689=
XM_017014933.1:c.1799_1809delinsTGCCTGTGAAA	XP_016870422.1:p.Leu600=
XM_024447617.1:c.1799_1809delinsTGCCTGTGAAA	XP_024303385.1:p.Leu600=
XM_024447618.1:c.1799_1809delinsTGCCTGTGAAA	XP_024303386.1:p.Leu600=
NM_020822.3:c.2309_2319delinsTGCCTGTGAAA MANE Select	NP_065873.2:p.Leu770=
NM_001272003.2:c.2174_2184delinsTGCCTGTGAAA	NP_001258932.1:p.Leu725=