Canonical Allele Identifier: CA860984023

Gene: KCNT1

Linked Data

• dbSNP Id: rs1396601494
• MyVariant Identifiers: chr9:g.138657898_138657939del (hg19) ; chr9:g.135766052_135766093del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135766052_135766093del , CM000671.2:g.135766052_135766093del	GRCh38
NC_000009.11:g.138657898_138657939del , CM000671.1:g.138657898_138657939del	GRCh37
NC_000009.10:g.137797719_137797760del	NCBI36
NG_033070.1:g.68868_68909del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1337+292_1337+333del MANE Select	ENSP00000360822.2:n.1337+292_1337+333del
ENST00000636003.1:c.27+292_27+333del
ENST00000636995.1:n.64+292_64+333del
ENST00000637798.1:n.76+292_76+333del
ENST00000674572.1:c.1178+292_1178+333del	ENSP00000501742.1:n.1178+292_1178+333del
ENST00000675090.1:c.1085+292_1085+333del	ENSP00000501833.1:n.1085+292_1085+333del
ENST00000675399.1:c.1085+292_1085+333del	ENSP00000501932.1:n.1085+292_1085+333del
ENST00000676421.1:c.1094+292_1094+333del	ENSP00000502322.1:n.1094+292_1094+333del
ENST00000263604.5:c.1238+292_1238+333del	ENSP00000263604.4:n.1238+292_1238+333del
ENST00000371757.6:c.1337+292_1337+333del	ENSP00000360822.2:n.1337+292_1337+333del
ENST00000460750.5:c.*947+292_*947+333del	ENSP00000418777.1:n.*947+292_*947+333del
ENST00000486577.6:c.1220+292_1220+333del	ENSP00000417578.3:n.1220+292_1220+333del
ENST00000487664.5:c.1337+292_1337+333del	ENSP00000417851.2:n.1337+292_1337+333del
ENST00000488444.6:c.1280+292_1280+333del	ENSP00000419007.3:n.1280+292_1280+333del
ENST00000490355.6:c.1280+292_1280+333del	ENSP00000418003.3:n.1280+292_1280+333del
ENST00000490363.3:n.1156+292_1156+333del
ENST00000491806.6:c.1280+292_1280+333del	ENSP00000419086.3:n.1280+292_1280+333del
ENST00000628528.2:c.1202+292_1202+333del	ENSP00000486374.1:n.1202+292_1202+333del
ENST00000630792.2:c.1178+292_1178+333del	ENSP00000486486.1:n.1178+292_1178+333del
ENST00000631073.2:c.1280+292_1280+333del	ENSP00000486130.1:n.1280+292_1280+333del
NM_001272003.1:c.1202+292_1202+333del	NP_001258932.1:n.1202+292_1202+333del
NM_020822.2:c.1337+292_1337+333del	NP_065873.2:n.1337+292_1337+333del
XM_011518877.1:c.1472+292_1472+333del	XP_011517179.1:n.1472+292_1472+333del
XM_011518878.1:c.1481+292_1481+333del	XP_011517180.1:n.1481+292_1481+333del
XM_011518879.1:c.1472+292_1472+333del	XP_011517181.1:n.1472+292_1472+333del
XM_011518880.1:c.1238+292_1238+333del	XP_011517182.1:n.1238+292_1238+333del
XM_011518881.1:c.827+292_827+333del	XP_011517183.1:n.827+292_827+333del
XM_011518877.3:c.1472+292_1472+333del	XP_011517179.1:n.1472+292_1472+333del
XM_011518878.3:c.1481+292_1481+333del	XP_011517180.1:n.1481+292_1481+333del
XM_011518879.3:c.1472+292_1472+333del	XP_011517181.1:n.1472+292_1472+333del
XM_011518881.3:c.827+292_827+333del	XP_011517183.1:n.827+292_827+333del
XM_017014931.1:c.1271+292_1271+333del	XP_016870420.1:n.1271+292_1271+333del
XM_017014932.1:c.1094+292_1094+333del	XP_016870421.1:n.1094+292_1094+333del
XM_017014933.1:c.827+292_827+333del	XP_016870422.1:n.827+292_827+333del
XM_024447617.1:c.827+292_827+333del	XP_024303385.1:n.827+292_827+333del
XM_024447618.1:c.827+292_827+333del	XP_024303386.1:n.827+292_827+333del
NM_020822.3:c.1337+292_1337+333del MANE Select	NP_065873.2:n.1337+292_1337+333del
NM_001272003.2:c.1202+292_1202+333del	NP_001258932.1:n.1202+292_1202+333del