Canonical Allele Identifier: CA1883866934

Gene: KCNT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135766079_135766093delinsCATCTAGGATGGACT , CM000671.2:g.135766079_135766093delinsCATCTAGGATGGACT	GRCh38
NC_000009.11:g.138657925_138657939delinsCATCTAGGATGGACT , CM000671.1:g.138657925_138657939delinsCATCTAGGATGGACT	GRCh37
NC_000009.10:g.137797746_137797760delinsCATCTAGGATGGACT	NCBI36
NG_033070.1:g.68895_68909delinsCATCTAGGATGGACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1337+319_1337+333delinsCATCTAGGATGGACT MANE Select	ENSP00000360822.2:n.1337+319_1337+333delinsCATCTAGGATGGACT
ENST00000636003.1:c.27+319_27+333delinsCATCTAGGATGGACT
ENST00000636995.1:n.64+319_64+333delinsCATCTAGGATGGACT
ENST00000637798.1:n.76+319_76+333delinsCATCTAGGATGGACT
ENST00000674572.1:c.1178+319_1178+333delinsCATCTAGGATGGACT	ENSP00000501742.1:n.1178+319_1178+333delinsCATCTAGGATGGACT
ENST00000675090.1:c.1085+319_1085+333delinsCATCTAGGATGGACT	ENSP00000501833.1:n.1085+319_1085+333delinsCATCTAGGATGGACT
ENST00000675399.1:c.1085+319_1085+333delinsCATCTAGGATGGACT	ENSP00000501932.1:n.1085+319_1085+333delinsCATCTAGGATGGACT
ENST00000676421.1:c.1094+319_1094+333delinsCATCTAGGATGGACT	ENSP00000502322.1:n.1094+319_1094+333delinsCATCTAGGATGGACT
ENST00000263604.5:c.1238+319_1238+333delinsCATCTAGGATGGACT	ENSP00000263604.4:n.1238+319_1238+333delinsCATCTAGGATGGACT
ENST00000371757.6:c.1337+319_1337+333delinsCATCTAGGATGGACT	ENSP00000360822.2:n.1337+319_1337+333delinsCATCTAGGATGGACT
ENST00000460750.5:c.*947+319_*947+333delinsCATCTAGGATGGACT	ENSP00000418777.1:n.*947+319_*947+333delinsCATCTAGGATGGACT
ENST00000486577.6:c.1220+319_1220+333delinsCATCTAGGATGGACT	ENSP00000417578.3:n.1220+319_1220+333delinsCATCTAGGATGGACT
ENST00000487664.5:c.1337+319_1337+333delinsCATCTAGGATGGACT	ENSP00000417851.2:n.1337+319_1337+333delinsCATCTAGGATGGACT
ENST00000488444.6:c.1280+319_1280+333delinsCATCTAGGATGGACT	ENSP00000419007.3:n.1280+319_1280+333delinsCATCTAGGATGGACT
ENST00000490355.6:c.1280+319_1280+333delinsCATCTAGGATGGACT	ENSP00000418003.3:n.1280+319_1280+333delinsCATCTAGGATGGACT
ENST00000490363.3:n.1156+319_1156+333delinsCATCTAGGATGGACT
ENST00000491806.6:c.1280+319_1280+333delinsCATCTAGGATGGACT	ENSP00000419086.3:n.1280+319_1280+333delinsCATCTAGGATGGACT
ENST00000628528.2:c.1202+319_1202+333delinsCATCTAGGATGGACT	ENSP00000486374.1:n.1202+319_1202+333delinsCATCTAGGATGGACT
ENST00000630792.2:c.1178+319_1178+333delinsCATCTAGGATGGACT	ENSP00000486486.1:n.1178+319_1178+333delinsCATCTAGGATGGACT
ENST00000631073.2:c.1280+319_1280+333delinsCATCTAGGATGGACT	ENSP00000486130.1:n.1280+319_1280+333delinsCATCTAGGATGGACT
NM_001272003.1:c.1202+319_1202+333delinsCATCTAGGATGGACT	NP_001258932.1:n.1202+319_1202+333delinsCATCTAGGATGGACT
NM_020822.2:c.1337+319_1337+333delinsCATCTAGGATGGACT	NP_065873.2:n.1337+319_1337+333delinsCATCTAGGATGGACT
XM_011518877.1:c.1472+319_1472+333delinsCATCTAGGATGGACT	XP_011517179.1:n.1472+319_1472+333delinsCATCTAGGATGGACT
XM_011518878.1:c.1481+319_1481+333delinsCATCTAGGATGGACT	XP_011517180.1:n.1481+319_1481+333delinsCATCTAGGATGGACT
XM_011518879.1:c.1472+319_1472+333delinsCATCTAGGATGGACT	XP_011517181.1:n.1472+319_1472+333delinsCATCTAGGATGGACT
XM_011518880.1:c.1238+319_1238+333delinsCATCTAGGATGGACT	XP_011517182.1:n.1238+319_1238+333delinsCATCTAGGATGGACT
XM_011518881.1:c.827+319_827+333delinsCATCTAGGATGGACT	XP_011517183.1:n.827+319_827+333delinsCATCTAGGATGGACT
XM_011518877.3:c.1472+319_1472+333delinsCATCTAGGATGGACT	XP_011517179.1:n.1472+319_1472+333delinsCATCTAGGATGGACT
XM_011518878.3:c.1481+319_1481+333delinsCATCTAGGATGGACT	XP_011517180.1:n.1481+319_1481+333delinsCATCTAGGATGGACT
XM_011518879.3:c.1472+319_1472+333delinsCATCTAGGATGGACT	XP_011517181.1:n.1472+319_1472+333delinsCATCTAGGATGGACT
XM_011518881.3:c.827+319_827+333delinsCATCTAGGATGGACT	XP_011517183.1:n.827+319_827+333delinsCATCTAGGATGGACT
XM_017014931.1:c.1271+319_1271+333delinsCATCTAGGATGGACT	XP_016870420.1:n.1271+319_1271+333delinsCATCTAGGATGGACT
XM_017014932.1:c.1094+319_1094+333delinsCATCTAGGATGGACT	XP_016870421.1:n.1094+319_1094+333delinsCATCTAGGATGGACT
XM_017014933.1:c.827+319_827+333delinsCATCTAGGATGGACT	XP_016870422.1:n.827+319_827+333delinsCATCTAGGATGGACT
XM_024447617.1:c.827+319_827+333delinsCATCTAGGATGGACT	XP_024303385.1:n.827+319_827+333delinsCATCTAGGATGGACT
XM_024447618.1:c.827+319_827+333delinsCATCTAGGATGGACT	XP_024303386.1:n.827+319_827+333delinsCATCTAGGATGGACT
NM_020822.3:c.1337+319_1337+333delinsCATCTAGGATGGACT MANE Select	NP_065873.2:n.1337+319_1337+333delinsCATCTAGGATGGACT
NM_001272003.2:c.1202+319_1202+333delinsCATCTAGGATGGACT	NP_001258932.1:n.1202+319_1202+333delinsCATCTAGGATGGACT