Canonical Allele Identifier: CA2692518390

Gene: KCNT1

Linked Data

• gnomAD v4: 9-135770096-GGCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135770098_135770100del , CM000671.2:g.135770098_135770100del	GRCh38
NC_000009.11:g.138661944_138661946del , CM000671.1:g.138661944_138661946del	GRCh37
NC_000009.10:g.137801765_137801767del	NCBI36
NG_033070.1:g.72914_72916del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1619+43_1619+45del MANE Select	ENSP00000360822.2:n.1619+43_1619+45del
ENST00000674572.1:c.1460+43_1460+45del	ENSP00000501742.1:n.1460+43_1460+45del
ENST00000675090.1:c.1367+43_1367+45del	ENSP00000501833.1:n.1367+43_1367+45del
ENST00000675399.1:c.1367+43_1367+45del	ENSP00000501932.1:n.1367+43_1367+45del
ENST00000676421.1:c.1376+43_1376+45del	ENSP00000502322.1:n.1376+43_1376+45del
ENST00000263604.5:c.1520+43_1520+45del	ENSP00000263604.4:n.1520+43_1520+45del
ENST00000371757.6:c.1619+43_1619+45del	ENSP00000360822.2:n.1619+43_1619+45del
ENST00000460750.5:c.*1229+43_*1229+45del	ENSP00000418777.1:n.*1229+43_*1229+45del
ENST00000486577.6:c.1502+43_1502+45del	ENSP00000417578.3:n.1502+43_1502+45del
ENST00000487664.5:c.1619+43_1619+45del	ENSP00000417851.2:n.1619+43_1619+45del
ENST00000488444.6:c.1562+43_1562+45del	ENSP00000419007.3:n.1562+43_1562+45del
ENST00000490355.6:c.1562+43_1562+45del	ENSP00000418003.3:n.1562+43_1562+45del
ENST00000490363.3:n.1438+43_1438+45del
ENST00000491806.6:c.1562+43_1562+45del	ENSP00000419086.3:n.1562+43_1562+45del
ENST00000628528.2:c.1484+43_1484+45del	ENSP00000486374.1:n.1484+43_1484+45del
ENST00000630792.2:c.1460+43_1460+45del	ENSP00000486486.1:n.1460+43_1460+45del
ENST00000631073.2:c.1562+43_1562+45del	ENSP00000486130.1:n.1562+43_1562+45del
NM_001272003.1:c.1484+43_1484+45del	NP_001258932.1:n.1484+43_1484+45del
NM_020822.2:c.1619+43_1619+45del	NP_065873.2:n.1619+43_1619+45del
XM_011518877.1:c.1754+43_1754+45del	XP_011517179.1:n.1754+43_1754+45del
XM_011518878.1:c.1763+43_1763+45del	XP_011517180.1:n.1763+43_1763+45del
XM_011518879.1:c.1754+43_1754+45del	XP_011517181.1:n.1754+43_1754+45del
XM_011518880.1:c.1520+43_1520+45del	XP_011517182.1:n.1520+43_1520+45del
XM_011518881.1:c.1109+43_1109+45del	XP_011517183.1:n.1109+43_1109+45del
XM_011518877.3:c.1754+43_1754+45del	XP_011517179.1:n.1754+43_1754+45del
XM_011518878.3:c.1763+43_1763+45del	XP_011517180.1:n.1763+43_1763+45del
XM_011518879.3:c.1754+43_1754+45del	XP_011517181.1:n.1754+43_1754+45del
XM_011518881.3:c.1109+43_1109+45del	XP_011517183.1:n.1109+43_1109+45del
XM_017014931.1:c.1553+43_1553+45del	XP_016870420.1:n.1553+43_1553+45del
XM_017014932.1:c.1376+43_1376+45del	XP_016870421.1:n.1376+43_1376+45del
XM_017014933.1:c.1109+43_1109+45del	XP_016870422.1:n.1109+43_1109+45del
XM_024447617.1:c.1109+43_1109+45del	XP_024303385.1:n.1109+43_1109+45del
XM_024447618.1:c.1109+43_1109+45del	XP_024303386.1:n.1109+43_1109+45del
NM_020822.3:c.1619+43_1619+45del MANE Select	NP_065873.2:n.1619+43_1619+45del
NM_001272003.2:c.1484+43_1484+45del	NP_001258932.1:n.1484+43_1484+45del