Canonical Allele Identifier: CA860988055

Gene: KCNT1

Linked Data

• ClinVar Variation Id: 2938444
• ClinVar RCV Id: RCV003799218
• dbSNP Id: rs1264558816
• gnomAD v4: 9-135770003-T-TGCCCGGCGACCTCCACCC
• MyVariant Identifiers: chr9:g.138661849_138661850insGCCCGGCGACCTCCACCC (hg19) ; chr9:g.135770003_135770004insGCCCGGCGACCTCCACCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135770004_135770021dup , CM000671.2:g.135770004_135770021dup	GRCh38
NC_000009.11:g.138661850_138661867dup , CM000671.1:g.138661850_138661867dup	GRCh37
NC_000009.10:g.137801671_137801688dup	NCBI36
NG_033070.1:g.72820_72837dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1568_1585dup MANE Select	ENSP00000360822.2:p.Thr528_Leu529insArgProAlaThrSerThr
ENST00000674572.1:c.1409_1426dup	ENSP00000501742.1:p.Thr475_Leu476insArgProAlaThrSerThr
ENST00000675090.1:c.1316_1333dup	ENSP00000501833.1:p.Thr444_Leu445insArgProAlaThrSerThr
ENST00000675399.1:c.1316_1333dup	ENSP00000501932.1:p.Thr444_Leu445insArgProAlaThrSerThr
ENST00000676421.1:c.1325_1342dup	ENSP00000502322.1:p.Thr447_Leu448insArgProAlaThrSerThr
ENST00000263604.5:c.1469_1486dup	ENSP00000263604.4:p.Thr495_Leu496insArgProAlaThrSerThr
ENST00000371757.6:c.1568_1585dup	ENSP00000360822.2:p.Thr528_Leu529insArgProAlaThrSerThr
ENST00000460750.5:c.*1178_*1195dup	ENSP00000418777.1:n.*1178_*1195dup
ENST00000486577.6:c.1451_1468dup	ENSP00000417578.3:p.Thr489_Leu490insArgProAlaThrSerThr
ENST00000487664.5:c.1568_1585dup	ENSP00000417851.2:p.Thr528_Leu529insArgProAlaThrSerThr
ENST00000488444.6:c.1511_1528dup	ENSP00000419007.3:p.Thr509_Leu510insArgProAlaThrSerThr
ENST00000490355.6:c.1511_1528dup	ENSP00000418003.3:p.Thr509_Leu510insArgProAlaThrSerThr
ENST00000490363.3:n.1387_1404dup
ENST00000491806.6:c.1511_1528dup	ENSP00000419086.3:p.Thr509_Leu510insArgProAlaThrSerThr
ENST00000628528.2:c.1433_1450dup	ENSP00000486374.1:p.Thr483_Leu484insArgProAlaThrSerThr
ENST00000630792.2:c.1409_1426dup	ENSP00000486486.1:p.Thr475_Leu476insArgProAlaThrSerThr
ENST00000631073.2:c.1511_1528dup	ENSP00000486130.1:p.Thr509_Leu510insArgProAlaThrSerThr
NM_001272003.1:c.1433_1450dup	NP_001258932.1:p.Thr483_Leu484insArgProAlaThrSerThr
NM_020822.2:c.1568_1585dup	NP_065873.2:p.Thr528_Leu529insArgProAlaThrSerThr
XM_011518877.1:c.1703_1720dup	XP_011517179.1:p.Thr573_Leu574insArgProAlaThrSerThr
XM_011518878.1:c.1712_1729dup	XP_011517180.1:p.Thr576_Leu577insArgProAlaThrSerThr
XM_011518879.1:c.1703_1720dup	XP_011517181.1:p.Thr573_Leu574insArgProAlaThrSerThr
XM_011518880.1:c.1469_1486dup	XP_011517182.1:p.Thr495_Leu496insArgProAlaThrSerThr
XM_011518881.1:c.1058_1075dup	XP_011517183.1:p.Thr358_Leu359insArgProAlaThrSerThr
XM_011518877.3:c.1703_1720dup	XP_011517179.1:p.Thr573_Leu574insArgProAlaThrSerThr
XM_011518878.3:c.1712_1729dup	XP_011517180.1:p.Thr576_Leu577insArgProAlaThrSerThr
XM_011518879.3:c.1703_1720dup	XP_011517181.1:p.Thr573_Leu574insArgProAlaThrSerThr
XM_011518881.3:c.1058_1075dup	XP_011517183.1:p.Thr358_Leu359insArgProAlaThrSerThr
XM_017014931.1:c.1502_1519dup	XP_016870420.1:p.Thr506_Leu507insArgProAlaThrSerThr
XM_017014932.1:c.1325_1342dup	XP_016870421.1:p.Thr447_Leu448insArgProAlaThrSerThr
XM_017014933.1:c.1058_1075dup	XP_016870422.1:p.Thr358_Leu359insArgProAlaThrSerThr
XM_024447617.1:c.1058_1075dup	XP_024303385.1:p.Thr358_Leu359insArgProAlaThrSerThr
XM_024447618.1:c.1058_1075dup	XP_024303386.1:p.Thr358_Leu359insArgProAlaThrSerThr
NM_020822.3:c.1568_1585dup MANE Select	NP_065873.2:p.Thr528_Leu529insArgProAlaThrSerThr
NM_001272003.2:c.1433_1450dup	NP_001258932.1:p.Thr483_Leu484insArgProAlaThrSerThr