Canonical Allele Identifier: CA2692518387

Gene: KCNT1

Linked Data

• gnomAD v4: 9-135770094-GGGGCCGGCGCAGGGAGACAACGCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135770100_135770123del , CM000671.2:g.135770100_135770123del	GRCh38
NC_000009.11:g.138661946_138661969del , CM000671.1:g.138661946_138661969del	GRCh37
NC_000009.10:g.137801767_137801790del	NCBI36
NG_033070.1:g.72916_72939del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1619+45_1619+68del MANE Select	ENSP00000360822.2:n.1619+45_1619+68del
ENST00000674572.1:c.1460+45_1460+68del	ENSP00000501742.1:n.1460+45_1460+68del
ENST00000675090.1:c.1367+45_1367+68del	ENSP00000501833.1:n.1367+45_1367+68del
ENST00000675399.1:c.1367+45_1367+68del	ENSP00000501932.1:n.1367+45_1367+68del
ENST00000676421.1:c.1376+45_1376+68del	ENSP00000502322.1:n.1376+45_1376+68del
ENST00000263604.5:c.1520+45_1520+68del	ENSP00000263604.4:n.1520+45_1520+68del
ENST00000371757.6:c.1619+45_1619+68del	ENSP00000360822.2:n.1619+45_1619+68del
ENST00000460750.5:c.*1229+45_*1229+68del	ENSP00000418777.1:n.*1229+45_*1229+68del
ENST00000486577.6:c.1502+45_1502+68del	ENSP00000417578.3:n.1502+45_1502+68del
ENST00000487664.5:c.1619+45_1619+68del	ENSP00000417851.2:n.1619+45_1619+68del
ENST00000488444.6:c.1562+45_1562+68del	ENSP00000419007.3:n.1562+45_1562+68del
ENST00000490355.6:c.1562+45_1562+68del	ENSP00000418003.3:n.1562+45_1562+68del
ENST00000490363.3:n.1438+45_1438+68del
ENST00000491806.6:c.1562+45_1562+68del	ENSP00000419086.3:n.1562+45_1562+68del
ENST00000628528.2:c.1484+45_1484+68del	ENSP00000486374.1:n.1484+45_1484+68del
ENST00000630792.2:c.1460+45_1460+68del	ENSP00000486486.1:n.1460+45_1460+68del
ENST00000631073.2:c.1562+45_1562+68del	ENSP00000486130.1:n.1562+45_1562+68del
NM_001272003.1:c.1484+45_1484+68del	NP_001258932.1:n.1484+45_1484+68del
NM_020822.2:c.1619+45_1619+68del	NP_065873.2:n.1619+45_1619+68del
XM_011518877.1:c.1754+45_1754+68del	XP_011517179.1:n.1754+45_1754+68del
XM_011518878.1:c.1763+45_1763+68del	XP_011517180.1:n.1763+45_1763+68del
XM_011518879.1:c.1754+45_1754+68del	XP_011517181.1:n.1754+45_1754+68del
XM_011518880.1:c.1520+45_1520+68del	XP_011517182.1:n.1520+45_1520+68del
XM_011518881.1:c.1109+45_1109+68del	XP_011517183.1:n.1109+45_1109+68del
XM_011518877.3:c.1754+45_1754+68del	XP_011517179.1:n.1754+45_1754+68del
XM_011518878.3:c.1763+45_1763+68del	XP_011517180.1:n.1763+45_1763+68del
XM_011518879.3:c.1754+45_1754+68del	XP_011517181.1:n.1754+45_1754+68del
XM_011518881.3:c.1109+45_1109+68del	XP_011517183.1:n.1109+45_1109+68del
XM_017014931.1:c.1553+45_1553+68del	XP_016870420.1:n.1553+45_1553+68del
XM_017014932.1:c.1376+45_1376+68del	XP_016870421.1:n.1376+45_1376+68del
XM_017014933.1:c.1109+45_1109+68del	XP_016870422.1:n.1109+45_1109+68del
XM_024447617.1:c.1109+45_1109+68del	XP_024303385.1:n.1109+45_1109+68del
XM_024447618.1:c.1109+45_1109+68del	XP_024303386.1:n.1109+45_1109+68del
NM_020822.3:c.1619+45_1619+68del MANE Select	NP_065873.2:n.1619+45_1619+68del
NM_001272003.2:c.1484+45_1484+68del	NP_001258932.1:n.1484+45_1484+68del