Canonical Allele Identifier: CA1883884896

Gene: KCNT1

Linked Data

• dbSNP Id: rs1833088879

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135775378_135775397dup , CM000671.2:g.135775378_135775397dup	GRCh38
NC_000009.11:g.138667224_138667243dup , CM000671.1:g.138667224_138667243dup	GRCh37
NC_000009.10:g.137807045_137807064dup	NCBI36
NG_033070.1:g.78194_78213dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.2312_2331dup MANE Select	ENSP00000360822.2:p.Cys778LeufsTer2
ENST00000674572.1:c.2153_2172dup	ENSP00000501742.1:p.Cys725LeufsTer2
ENST00000675090.1:c.2060_2079dup	ENSP00000501833.1:p.Cys694LeufsTer2
ENST00000675399.1:c.2060_2079dup	ENSP00000501932.1:p.Cys694LeufsTer2
ENST00000676421.1:c.2069_2088dup	ENSP00000502322.1:p.Cys697LeufsTer2
ENST00000263604.5:c.2213_2232dup	ENSP00000263604.4:p.Cys745LeufsTer2
ENST00000371757.6:c.2312_2331dup	ENSP00000360822.2:p.Cys778LeufsTer2
ENST00000460750.5:c.*1922_*1941dup	ENSP00000418777.1:n.*1922_*1941dup
ENST00000486577.6:c.2195_2214dup	ENSP00000417578.3:p.Cys739LeufsTer2
ENST00000487664.5:c.2312_2331dup	ENSP00000417851.2:p.Cys778LeufsTer2
ENST00000488444.6:c.2255_2274dup	ENSP00000419007.3:p.Cys759LeufsTer2
ENST00000490355.6:c.2249_2268dup	ENSP00000418003.3:p.Cys757LeufsTer2
ENST00000490363.3:n.2131_2150dup
ENST00000491806.6:c.2255_2274dup	ENSP00000419086.3:p.Cys759LeufsTer2
ENST00000628528.2:c.2177_2196dup	ENSP00000486374.1:p.Cys733LeufsTer2
ENST00000630792.2:c.2147_2166dup	ENSP00000486486.1:p.Cys723LeufsTer2
ENST00000631073.2:c.2255_2274dup	ENSP00000486130.1:p.Cys759LeufsTer2
ENST00000631193.1:c.161_180dup	ENSP00000486830.1:p.Cys61LeufsTer2
NM_001272003.1:c.2177_2196dup	NP_001258932.1:p.Cys733LeufsTer2
NM_020822.2:c.2312_2331dup	NP_065873.2:p.Cys778LeufsTer2
XM_011518877.1:c.2447_2466dup	XP_011517179.1:p.Cys823LeufsTer2
XM_011518878.1:c.2456_2475dup	XP_011517180.1:p.Cys826LeufsTer2
XM_011518879.1:c.2447_2466dup	XP_011517181.1:p.Cys823LeufsTer2
XM_011518880.1:c.2213_2232dup	XP_011517182.1:p.Cys745LeufsTer2
XM_011518881.1:c.1802_1821dup	XP_011517183.1:p.Cys608LeufsTer2
XM_011518877.3:c.2447_2466dup	XP_011517179.1:p.Cys823LeufsTer2
XM_011518878.3:c.2456_2475dup	XP_011517180.1:p.Cys826LeufsTer2
XM_011518879.3:c.2447_2466dup	XP_011517181.1:p.Cys823LeufsTer2
XM_011518881.3:c.1802_1821dup	XP_011517183.1:p.Cys608LeufsTer2
XM_017014931.1:c.2246_2265dup	XP_016870420.1:p.Cys756LeufsTer2
XM_017014932.1:c.2069_2088dup	XP_016870421.1:p.Cys697LeufsTer2
XM_017014933.1:c.1802_1821dup	XP_016870422.1:p.Cys608LeufsTer2
XM_024447617.1:c.1802_1821dup	XP_024303385.1:p.Cys608LeufsTer2
XM_024447618.1:c.1802_1821dup	XP_024303386.1:p.Cys608LeufsTer2
NM_020822.3:c.2312_2331dup MANE Select	NP_065873.2:p.Cys778LeufsTer2
NM_001272003.2:c.2177_2196dup	NP_001258932.1:p.Cys733LeufsTer2