Canonical Allele Identifier: CA5326765
Gene: KCNT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 289274
dbSNP Id: rs796214553

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.135765072_135765073del , CM000671.2:g.135765072_135765073del GRCh38
NC_000009.11:g.138656918_138656919del , CM000671.1:g.138656918_138656919del GRCh37
NC_000009.10:g.137796739_137796740del NCBI36
NG_033070.1:g.67888_67889del

Transcript Alleles

HGVS Amino-acid change
ENST00000371757.7:c.1077_1078del MANE Select ENSP00000360822.2:p.Gly361GlnfsTer?
ENST00000674572.1:c.918_919del ENSP00000501742.1:p.Gly308GlnfsTer?
ENST00000675090.1:c.825_826del ENSP00000501833.1:p.Gly277GlnfsTer?
ENST00000675399.1:c.825_826del ENSP00000501932.1:p.Gly277GlnfsTer?
ENST00000676421.1:c.834_835del ENSP00000502322.1:p.Gly280GlnfsTer?
ENST00000263604.5:c.978_979del ENSP00000263604.4:p.Gly328GlnfsTer?
ENST00000371757.6:c.1077_1078del ENSP00000360822.2:p.Gly361GlnfsTer?
ENST00000460750.5:c.*687_*688del ENSP00000418777.1:p.=
ENST00000486577.6:c.960_961del ENSP00000417578.3:p.Gly322GlnfsTer?
ENST00000487664.5:c.1077_1078del ENSP00000417851.2:p.Gly361GlnfsTer?
ENST00000488444.6:c.1020_1021del ENSP00000419007.3:p.Gly342GlnfsTer?
ENST00000490355.6:n.1020_1021del ENSP00000418003.3:p.Gly342GlnfsTer?
ENST00000490363.3:n.896_897del
ENST00000491806.6:c.1020_1021del ENSP00000419086.3:p.Gly342GlnfsTer?
ENST00000628528.2:c.942_943del ENSP00000486374.1:p.Gly316GlnfsTer?
ENST00000630792.2:n.918_919del ENSP00000486486.1:p.Gly308GlnfsTer?
ENST00000631073.2:c.1020_1021del ENSP00000486130.1:p.Gly342GlnfsTer?
NM_001272003.1:c.942_943del NP_001258932.1:p.Gly316GlnfsTer?
NM_020822.2:c.1077_1078del NP_065873.2:p.Gly361GlnfsTer?
XM_011518877.1:c.1212_1213del XP_011517179.1:p.Gly406GlnfsTer?
XM_011518878.1:c.1221_1222del XP_011517180.1:p.Gly409GlnfsTer?
XM_011518879.1:c.1212_1213del XP_011517181.1:p.Gly406GlnfsTer?
XM_011518880.1:n.978_979del XP_011517182.1:p.Gly328GlnfsTer?
XM_011518881.1:c.567_568del XP_011517183.1:p.Gly191GlnfsTer?
XM_011518877.3:c.1212_1213del XP_011517179.1:p.Gly406GlnfsTer?
XM_011518878.3:c.1221_1222del XP_011517180.1:p.Gly409GlnfsTer?
XM_011518879.3:c.1212_1213del XP_011517181.1:p.Gly406GlnfsTer?
XM_011518881.3:c.567_568del XP_011517183.1:p.Gly191GlnfsTer?
XM_017014931.1:c.1011_1012del XP_016870420.1:p.Gly339GlnfsTer?
XM_017014932.1:c.834_835del XP_016870421.1:p.Gly280GlnfsTer?
XM_017014933.1:c.567_568del XP_016870422.1:p.Gly191GlnfsTer?
XM_024447617.1:c.567_568del XP_024303385.1:p.Gly191GlnfsTer?
XM_024447618.1:c.567_568del XP_024303386.1:p.Gly191GlnfsTer?
NM_020822.3:c.1077_1078del MANE Select NP_065873.2:p.Gly361GlnfsTer?
NM_001272003.2:c.942_943del NP_001258932.1:p.Gly316GlnfsTer?