Canonical Allele Identifier: CA1883866901
Gene: KCNT1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.135766041_135766055delinsAAGGGTGGACCATCC , CM000671.2:g.135766041_135766055delinsAAGGGTGGACCATCC GRCh38
NC_000009.11:g.138657887_138657901delinsAAGGGTGGACCATCC , CM000671.1:g.138657887_138657901delinsAAGGGTGGACCATCC GRCh37
NC_000009.10:g.137797708_137797722delinsAAGGGTGGACCATCC NCBI36
NG_033070.1:g.68857_68871delinsAAGGGTGGACCATCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000371757.7:c.1337+281_1337+295delinsAAGGGTGGACCATCC MANE Select ENSP00000360822.2:n.1337+281_1337+295delinsAAGGGTGGACCATCC
ENST00000636003.1:c.27+281_27+295delinsAAGGGTGGACCATCC
ENST00000636995.1:n.64+281_64+295delinsAAGGGTGGACCATCC
ENST00000637798.1:n.76+281_76+295delinsAAGGGTGGACCATCC
ENST00000674572.1:c.1178+281_1178+295delinsAAGGGTGGACCATCC ENSP00000501742.1:n.1178+281_1178+295delinsAAGGGTGGACCATCC
ENST00000675090.1:c.1085+281_1085+295delinsAAGGGTGGACCATCC ENSP00000501833.1:n.1085+281_1085+295delinsAAGGGTGGACCATCC
ENST00000675399.1:c.1085+281_1085+295delinsAAGGGTGGACCATCC ENSP00000501932.1:n.1085+281_1085+295delinsAAGGGTGGACCATCC
ENST00000676421.1:c.1094+281_1094+295delinsAAGGGTGGACCATCC ENSP00000502322.1:n.1094+281_1094+295delinsAAGGGTGGACCATCC
ENST00000263604.5:c.1238+281_1238+295delinsAAGGGTGGACCATCC ENSP00000263604.4:n.1238+281_1238+295delinsAAGGGTGGACCATCC
ENST00000371757.6:c.1337+281_1337+295delinsAAGGGTGGACCATCC ENSP00000360822.2:n.1337+281_1337+295delinsAAGGGTGGACCATCC
ENST00000460750.5:c.*947+281_*947+295delinsAAGGGTGGACCATCC ENSP00000418777.1:n.*947+281_*947+295delinsAAGGGTGGACCATCC
ENST00000486577.6:c.1220+281_1220+295delinsAAGGGTGGACCATCC ENSP00000417578.3:n.1220+281_1220+295delinsAAGGGTGGACCATCC
ENST00000487664.5:c.1337+281_1337+295delinsAAGGGTGGACCATCC ENSP00000417851.2:n.1337+281_1337+295delinsAAGGGTGGACCATCC
ENST00000488444.6:c.1280+281_1280+295delinsAAGGGTGGACCATCC ENSP00000419007.3:n.1280+281_1280+295delinsAAGGGTGGACCATCC
ENST00000490355.6:c.1280+281_1280+295delinsAAGGGTGGACCATCC ENSP00000418003.3:n.1280+281_1280+295delinsAAGGGTGGACCATCC
ENST00000490363.3:n.1156+281_1156+295delinsAAGGGTGGACCATCC
ENST00000491806.6:c.1280+281_1280+295delinsAAGGGTGGACCATCC ENSP00000419086.3:n.1280+281_1280+295delinsAAGGGTGGACCATCC
ENST00000628528.2:c.1202+281_1202+295delinsAAGGGTGGACCATCC ENSP00000486374.1:n.1202+281_1202+295delinsAAGGGTGGACCATCC
ENST00000630792.2:c.1178+281_1178+295delinsAAGGGTGGACCATCC ENSP00000486486.1:n.1178+281_1178+295delinsAAGGGTGGACCATCC
ENST00000631073.2:c.1280+281_1280+295delinsAAGGGTGGACCATCC ENSP00000486130.1:n.1280+281_1280+295delinsAAGGGTGGACCATCC
NM_001272003.1:c.1202+281_1202+295delinsAAGGGTGGACCATCC NP_001258932.1:n.1202+281_1202+295delinsAAGGGTGGACCATCC
NM_020822.2:c.1337+281_1337+295delinsAAGGGTGGACCATCC NP_065873.2:n.1337+281_1337+295delinsAAGGGTGGACCATCC
XM_011518877.1:c.1472+281_1472+295delinsAAGGGTGGACCATCC XP_011517179.1:n.1472+281_1472+295delinsAAGGGTGGACCATCC
XM_011518878.1:c.1481+281_1481+295delinsAAGGGTGGACCATCC XP_011517180.1:n.1481+281_1481+295delinsAAGGGTGGACCATCC
XM_011518879.1:c.1472+281_1472+295delinsAAGGGTGGACCATCC XP_011517181.1:n.1472+281_1472+295delinsAAGGGTGGACCATCC
XM_011518880.1:c.1238+281_1238+295delinsAAGGGTGGACCATCC XP_011517182.1:n.1238+281_1238+295delinsAAGGGTGGACCATCC
XM_011518881.1:c.827+281_827+295delinsAAGGGTGGACCATCC XP_011517183.1:n.827+281_827+295delinsAAGGGTGGACCATCC
XM_011518877.3:c.1472+281_1472+295delinsAAGGGTGGACCATCC XP_011517179.1:n.1472+281_1472+295delinsAAGGGTGGACCATCC
XM_011518878.3:c.1481+281_1481+295delinsAAGGGTGGACCATCC XP_011517180.1:n.1481+281_1481+295delinsAAGGGTGGACCATCC
XM_011518879.3:c.1472+281_1472+295delinsAAGGGTGGACCATCC XP_011517181.1:n.1472+281_1472+295delinsAAGGGTGGACCATCC
XM_011518881.3:c.827+281_827+295delinsAAGGGTGGACCATCC XP_011517183.1:n.827+281_827+295delinsAAGGGTGGACCATCC
XM_017014931.1:c.1271+281_1271+295delinsAAGGGTGGACCATCC XP_016870420.1:n.1271+281_1271+295delinsAAGGGTGGACCATCC
XM_017014932.1:c.1094+281_1094+295delinsAAGGGTGGACCATCC XP_016870421.1:n.1094+281_1094+295delinsAAGGGTGGACCATCC
XM_017014933.1:c.827+281_827+295delinsAAGGGTGGACCATCC XP_016870422.1:n.827+281_827+295delinsAAGGGTGGACCATCC
XM_024447617.1:c.827+281_827+295delinsAAGGGTGGACCATCC XP_024303385.1:n.827+281_827+295delinsAAGGGTGGACCATCC
XM_024447618.1:c.827+281_827+295delinsAAGGGTGGACCATCC XP_024303386.1:n.827+281_827+295delinsAAGGGTGGACCATCC
NM_020822.3:c.1337+281_1337+295delinsAAGGGTGGACCATCC MANE Select NP_065873.2:n.1337+281_1337+295delinsAAGGGTGGACCATCC
NM_001272003.2:c.1202+281_1202+295delinsAAGGGTGGACCATCC NP_001258932.1:n.1202+281_1202+295delinsAAGGGTGGACCATCC
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