Canonical Allele Identifier: CA1129962507

Gene: KCNT1

Linked Data

• gnomAD v3: 9-135766028-GGAGTGAACTGTCAA-G
• gnomAD v4: 9-135766028-GGAGTGAACTGTCAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135766030_135766043del , CM000671.2:g.135766030_135766043del	GRCh38
NC_000009.11:g.138657876_138657889del , CM000671.1:g.138657876_138657889del	GRCh37
NC_000009.10:g.137797697_137797710del	NCBI36
NG_033070.1:g.68846_68859del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1337+270_1337+283del MANE Select	ENSP00000360822.2:n.1337+270_1337+283del
ENST00000636003.1:c.27+270_27+283del
ENST00000636995.1:n.64+270_64+283del
ENST00000637798.1:n.76+270_76+283del
ENST00000674572.1:c.1178+270_1178+283del	ENSP00000501742.1:n.1178+270_1178+283del
ENST00000675090.1:c.1085+270_1085+283del	ENSP00000501833.1:n.1085+270_1085+283del
ENST00000675399.1:c.1085+270_1085+283del	ENSP00000501932.1:n.1085+270_1085+283del
ENST00000676421.1:c.1094+270_1094+283del	ENSP00000502322.1:n.1094+270_1094+283del
ENST00000263604.5:c.1238+270_1238+283del	ENSP00000263604.4:n.1238+270_1238+283del
ENST00000371757.6:c.1337+270_1337+283del	ENSP00000360822.2:n.1337+270_1337+283del
ENST00000460750.5:c.*947+270_*947+283del	ENSP00000418777.1:n.*947+270_*947+283del
ENST00000486577.6:c.1220+270_1220+283del	ENSP00000417578.3:n.1220+270_1220+283del
ENST00000487664.5:c.1337+270_1337+283del	ENSP00000417851.2:n.1337+270_1337+283del
ENST00000488444.6:c.1280+270_1280+283del	ENSP00000419007.3:n.1280+270_1280+283del
ENST00000490355.6:c.1280+270_1280+283del	ENSP00000418003.3:n.1280+270_1280+283del
ENST00000490363.3:n.1156+270_1156+283del
ENST00000491806.6:c.1280+270_1280+283del	ENSP00000419086.3:n.1280+270_1280+283del
ENST00000628528.2:c.1202+270_1202+283del	ENSP00000486374.1:n.1202+270_1202+283del
ENST00000630792.2:c.1178+270_1178+283del	ENSP00000486486.1:n.1178+270_1178+283del
ENST00000631073.2:c.1280+270_1280+283del	ENSP00000486130.1:n.1280+270_1280+283del
NM_001272003.1:c.1202+270_1202+283del	NP_001258932.1:n.1202+270_1202+283del
NM_020822.2:c.1337+270_1337+283del	NP_065873.2:n.1337+270_1337+283del
XM_011518877.1:c.1472+270_1472+283del	XP_011517179.1:n.1472+270_1472+283del
XM_011518878.1:c.1481+270_1481+283del	XP_011517180.1:n.1481+270_1481+283del
XM_011518879.1:c.1472+270_1472+283del	XP_011517181.1:n.1472+270_1472+283del
XM_011518880.1:c.1238+270_1238+283del	XP_011517182.1:n.1238+270_1238+283del
XM_011518881.1:c.827+270_827+283del	XP_011517183.1:n.827+270_827+283del
XM_011518877.3:c.1472+270_1472+283del	XP_011517179.1:n.1472+270_1472+283del
XM_011518878.3:c.1481+270_1481+283del	XP_011517180.1:n.1481+270_1481+283del
XM_011518879.3:c.1472+270_1472+283del	XP_011517181.1:n.1472+270_1472+283del
XM_011518881.3:c.827+270_827+283del	XP_011517183.1:n.827+270_827+283del
XM_017014931.1:c.1271+270_1271+283del	XP_016870420.1:n.1271+270_1271+283del
XM_017014932.1:c.1094+270_1094+283del	XP_016870421.1:n.1094+270_1094+283del
XM_017014933.1:c.827+270_827+283del	XP_016870422.1:n.827+270_827+283del
XM_024447617.1:c.827+270_827+283del	XP_024303385.1:n.827+270_827+283del
XM_024447618.1:c.827+270_827+283del	XP_024303386.1:n.827+270_827+283del
NM_020822.3:c.1337+270_1337+283del MANE Select	NP_065873.2:n.1337+270_1337+283del
NM_001272003.2:c.1202+270_1202+283del	NP_001258932.1:n.1202+270_1202+283del