Canonical Allele Identifier: CA1883866703

Gene: KCNT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135765749_135765750delinsCA , CM000671.2:g.135765749_135765750delinsCA	GRCh38
NC_000009.11:g.138657595_138657596delinsCA , CM000671.1:g.138657595_138657596delinsCA	GRCh37
NC_000009.10:g.137797416_137797417delinsCA	NCBI36
NG_033070.1:g.68565_68566delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1326_1327delinsCA MANE Select	ENSP00000360822.2:p.Leu442=
ENST00000636003.1:c.16_17delinsCA
ENST00000636995.1:n.53_54delinsCA
ENST00000637798.1:n.65_66delinsCA
ENST00000674572.1:c.1167_1168delinsCA	ENSP00000501742.1:p.Leu389=
ENST00000675090.1:c.1074_1075delinsCA	ENSP00000501833.1:p.Leu358=
ENST00000675399.1:c.1074_1075delinsCA	ENSP00000501932.1:p.Leu358=
ENST00000676421.1:c.1083_1084delinsCA	ENSP00000502322.1:p.Leu361=
ENST00000263604.5:c.1227_1228delinsCA	ENSP00000263604.4:p.Leu409=
ENST00000371757.6:c.1326_1327delinsCA	ENSP00000360822.2:p.Leu442=
ENST00000460750.5:c.*936_*937delinsCA	ENSP00000418777.1:n.*936_*937delinsCA
ENST00000486577.6:c.1209_1210delinsCA	ENSP00000417578.3:p.Leu403=
ENST00000487664.5:c.1326_1327delinsCA	ENSP00000417851.2:p.Leu442=
ENST00000488444.6:c.1269_1270delinsCA	ENSP00000419007.3:p.Leu423=
ENST00000490355.6:c.1269_1270delinsCA	ENSP00000418003.3:p.Leu423=
ENST00000490363.3:n.1145_1146delinsCA
ENST00000491806.6:c.1269_1270delinsCA	ENSP00000419086.3:p.Leu423=
ENST00000628528.2:c.1191_1192delinsCA	ENSP00000486374.1:p.Leu397=
ENST00000630792.2:c.1167_1168delinsCA	ENSP00000486486.1:p.Leu389=
ENST00000631073.2:c.1269_1270delinsCA	ENSP00000486130.1:p.Leu423=
NM_001272003.1:c.1191_1192delinsCA	NP_001258932.1:p.Leu397=
NM_020822.2:c.1326_1327delinsCA	NP_065873.2:p.Leu442=
XM_011518877.1:c.1461_1462delinsCA	XP_011517179.1:p.Leu487=
XM_011518878.1:c.1470_1471delinsCA	XP_011517180.1:p.Leu490=
XM_011518879.1:c.1461_1462delinsCA	XP_011517181.1:p.Leu487=
XM_011518880.1:c.1227_1228delinsCA	XP_011517182.1:p.Leu409=
XM_011518881.1:c.816_817delinsCA	XP_011517183.1:p.Leu272=
XM_011518877.3:c.1461_1462delinsCA	XP_011517179.1:p.Leu487=
XM_011518878.3:c.1470_1471delinsCA	XP_011517180.1:p.Leu490=
XM_011518879.3:c.1461_1462delinsCA	XP_011517181.1:p.Leu487=
XM_011518881.3:c.816_817delinsCA	XP_011517183.1:p.Leu272=
XM_017014931.1:c.1260_1261delinsCA	XP_016870420.1:p.Leu420=
XM_017014932.1:c.1083_1084delinsCA	XP_016870421.1:p.Leu361=
XM_017014933.1:c.816_817delinsCA	XP_016870422.1:p.Leu272=
XM_024447617.1:c.816_817delinsCA	XP_024303385.1:p.Leu272=
XM_024447618.1:c.816_817delinsCA	XP_024303386.1:p.Leu272=
NM_020822.3:c.1326_1327delinsCA MANE Select	NP_065873.2:p.Leu442=
NM_001272003.2:c.1191_1192delinsCA	NP_001258932.1:p.Leu397=