Canonical Allele Identifier: CA2580080060

Gene: KCNT1

Linked Data

• ClinVar Variation Id: 2037260
• ClinVar RCV Id: RCV002882163

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135765683_135765692dup , CM000671.2:g.135765683_135765692dup	GRCh38
NC_000009.11:g.138657529_138657538dup , CM000671.1:g.138657529_138657538dup	GRCh37
NC_000009.10:g.137797350_137797359dup	NCBI36
NG_033070.1:g.68499_68508dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1260_1269dup MANE Select	ENSP00000360822.2:p.Leu424AlafsTer?
ENST00000674572.1:c.1101_1110dup	ENSP00000501742.1:p.Leu371AlafsTer?
ENST00000675090.1:c.1008_1017dup	ENSP00000501833.1:p.Leu340AlafsTer?
ENST00000675399.1:c.1008_1017dup	ENSP00000501932.1:p.Leu340AlafsTer?
ENST00000676421.1:c.1017_1026dup	ENSP00000502322.1:p.Leu343AlafsTer?
ENST00000263604.5:c.1161_1170dup	ENSP00000263604.4:p.Leu391AlafsTer?
ENST00000371757.6:c.1260_1269dup	ENSP00000360822.2:p.Leu424AlafsTer?
ENST00000460750.5:c.*870_*879dup	ENSP00000418777.1:n.*870_*879dup
ENST00000486577.6:c.1143_1152dup	ENSP00000417578.3:p.Leu385AlafsTer?
ENST00000487664.5:c.1260_1269dup	ENSP00000417851.2:p.Leu424AlafsTer?
ENST00000488444.6:c.1203_1212dup	ENSP00000419007.3:p.Leu405AlafsTer?
ENST00000490355.6:c.1203_1212dup	ENSP00000418003.3:p.Leu405AlafsTer?
ENST00000490363.3:n.1079_1088dup
ENST00000491806.6:c.1203_1212dup	ENSP00000419086.3:p.Leu405AlafsTer?
ENST00000628528.2:c.1125_1134dup	ENSP00000486374.1:p.Leu379AlafsTer?
ENST00000630792.2:c.1101_1110dup	ENSP00000486486.1:p.Leu371AlafsTer?
ENST00000631073.2:c.1203_1212dup	ENSP00000486130.1:p.Leu405AlafsTer?
NM_001272003.1:c.1125_1134dup	NP_001258932.1:p.Leu379AlafsTer?
NM_020822.2:c.1260_1269dup	NP_065873.2:p.Leu424AlafsTer?
XM_011518877.1:c.1395_1404dup	XP_011517179.1:p.Leu469AlafsTer?
XM_011518878.1:c.1404_1413dup	XP_011517180.1:p.Leu472AlafsTer?
XM_011518879.1:c.1395_1404dup	XP_011517181.1:p.Leu469AlafsTer?
XM_011518880.1:c.1161_1170dup	XP_011517182.1:p.Leu391AlafsTer?
XM_011518881.1:c.750_759dup	XP_011517183.1:p.Leu254AlafsTer?
XM_011518877.3:c.1395_1404dup	XP_011517179.1:p.Leu469AlafsTer?
XM_011518878.3:c.1404_1413dup	XP_011517180.1:p.Leu472AlafsTer?
XM_011518879.3:c.1395_1404dup	XP_011517181.1:p.Leu469AlafsTer?
XM_011518881.3:c.750_759dup	XP_011517183.1:p.Leu254AlafsTer?
XM_017014931.1:c.1194_1203dup	XP_016870420.1:p.Leu402AlafsTer?
XM_017014932.1:c.1017_1026dup	XP_016870421.1:p.Leu343AlafsTer?
XM_017014933.1:c.750_759dup	XP_016870422.1:p.Leu254AlafsTer?
XM_024447617.1:c.750_759dup	XP_024303385.1:p.Leu254AlafsTer?
XM_024447618.1:c.750_759dup	XP_024303386.1:p.Leu254AlafsTer?
NM_020822.3:c.1260_1269dup MANE Select	NP_065873.2:p.Leu424AlafsTer?
NM_001272003.2:c.1125_1134dup	NP_001258932.1:p.Leu379AlafsTer?