Canonical Allele Identifier: CA1883866916

Gene: KCNT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135766060_135766062delinsTGG , CM000671.2:g.135766060_135766062delinsTGG	GRCh38
NC_000009.11:g.138657906_138657908delinsTGG , CM000671.1:g.138657906_138657908delinsTGG	GRCh37
NC_000009.10:g.137797727_137797729delinsTGG	NCBI36
NG_033070.1:g.68876_68878delinsTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1337+300_1337+302delinsTGG MANE Select	ENSP00000360822.2:n.1337+300_1337+302delinsTGG
ENST00000636003.1:c.27+300_27+302delinsTGG
ENST00000636995.1:n.64+300_64+302delinsTGG
ENST00000637798.1:n.76+300_76+302delinsTGG
ENST00000674572.1:c.1178+300_1178+302delinsTGG	ENSP00000501742.1:n.1178+300_1178+302delinsTGG
ENST00000675090.1:c.1085+300_1085+302delinsTGG	ENSP00000501833.1:n.1085+300_1085+302delinsTGG
ENST00000675399.1:c.1085+300_1085+302delinsTGG	ENSP00000501932.1:n.1085+300_1085+302delinsTGG
ENST00000676421.1:c.1094+300_1094+302delinsTGG	ENSP00000502322.1:n.1094+300_1094+302delinsTGG
ENST00000263604.5:c.1238+300_1238+302delinsTGG	ENSP00000263604.4:n.1238+300_1238+302delinsTGG
ENST00000371757.6:c.1337+300_1337+302delinsTGG	ENSP00000360822.2:n.1337+300_1337+302delinsTGG
ENST00000460750.5:c.*947+300_*947+302delinsTGG	ENSP00000418777.1:n.*947+300_*947+302delinsTGG
ENST00000486577.6:c.1220+300_1220+302delinsTGG	ENSP00000417578.3:n.1220+300_1220+302delinsTGG
ENST00000487664.5:c.1337+300_1337+302delinsTGG	ENSP00000417851.2:n.1337+300_1337+302delinsTGG
ENST00000488444.6:c.1280+300_1280+302delinsTGG	ENSP00000419007.3:n.1280+300_1280+302delinsTGG
ENST00000490355.6:c.1280+300_1280+302delinsTGG	ENSP00000418003.3:n.1280+300_1280+302delinsTGG
ENST00000490363.3:n.1156+300_1156+302delinsTGG
ENST00000491806.6:c.1280+300_1280+302delinsTGG	ENSP00000419086.3:n.1280+300_1280+302delinsTGG
ENST00000628528.2:c.1202+300_1202+302delinsTGG	ENSP00000486374.1:n.1202+300_1202+302delinsTGG
ENST00000630792.2:c.1178+300_1178+302delinsTGG	ENSP00000486486.1:n.1178+300_1178+302delinsTGG
ENST00000631073.2:c.1280+300_1280+302delinsTGG	ENSP00000486130.1:n.1280+300_1280+302delinsTGG
NM_001272003.1:c.1202+300_1202+302delinsTGG	NP_001258932.1:n.1202+300_1202+302delinsTGG
NM_020822.2:c.1337+300_1337+302delinsTGG	NP_065873.2:n.1337+300_1337+302delinsTGG
XM_011518877.1:c.1472+300_1472+302delinsTGG	XP_011517179.1:n.1472+300_1472+302delinsTGG
XM_011518878.1:c.1481+300_1481+302delinsTGG	XP_011517180.1:n.1481+300_1481+302delinsTGG
XM_011518879.1:c.1472+300_1472+302delinsTGG	XP_011517181.1:n.1472+300_1472+302delinsTGG
XM_011518880.1:c.1238+300_1238+302delinsTGG	XP_011517182.1:n.1238+300_1238+302delinsTGG
XM_011518881.1:c.827+300_827+302delinsTGG	XP_011517183.1:n.827+300_827+302delinsTGG
XM_011518877.3:c.1472+300_1472+302delinsTGG	XP_011517179.1:n.1472+300_1472+302delinsTGG
XM_011518878.3:c.1481+300_1481+302delinsTGG	XP_011517180.1:n.1481+300_1481+302delinsTGG
XM_011518879.3:c.1472+300_1472+302delinsTGG	XP_011517181.1:n.1472+300_1472+302delinsTGG
XM_011518881.3:c.827+300_827+302delinsTGG	XP_011517183.1:n.827+300_827+302delinsTGG
XM_017014931.1:c.1271+300_1271+302delinsTGG	XP_016870420.1:n.1271+300_1271+302delinsTGG
XM_017014932.1:c.1094+300_1094+302delinsTGG	XP_016870421.1:n.1094+300_1094+302delinsTGG
XM_017014933.1:c.827+300_827+302delinsTGG	XP_016870422.1:n.827+300_827+302delinsTGG
XM_024447617.1:c.827+300_827+302delinsTGG	XP_024303385.1:n.827+300_827+302delinsTGG
XM_024447618.1:c.827+300_827+302delinsTGG	XP_024303386.1:n.827+300_827+302delinsTGG
NM_020822.3:c.1337+300_1337+302delinsTGG MANE Select	NP_065873.2:n.1337+300_1337+302delinsTGG
NM_001272003.2:c.1202+300_1202+302delinsTGG	NP_001258932.1:n.1202+300_1202+302delinsTGG