Canonical Allele Identifier: CA201465130
Gene: KCNT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.135765072_135765073insAG , CM000671.2:g.135765072_135765073insAG GRCh38
NC_000009.11:g.138656918_138656919insAG , CM000671.1:g.138656918_138656919insAG GRCh37
NC_000009.10:g.137796739_137796740insAG NCBI36
NG_033070.1:g.67888_67889insAG

Transcript Alleles

HGVS Amino-acid change
ENST00000371757.7:c.1077_1078insAG MANE Select ENSP00000360822.2:p.Gly360ArgfsTer?
ENST00000674572.1:c.918_919insAG ENSP00000501742.1:p.Gly307ArgfsTer?
ENST00000675090.1:c.825_826insAG ENSP00000501833.1:p.Gly276ArgfsTer?
ENST00000675399.1:c.825_826insAG ENSP00000501932.1:p.Gly276ArgfsTer?
ENST00000676421.1:c.834_835insAG ENSP00000502322.1:p.Gly279ArgfsTer?
ENST00000263604.5:c.978_979insAG ENSP00000263604.4:p.Gly327ArgfsTer?
ENST00000371757.6:c.1077_1078insAG ENSP00000360822.2:p.Gly360ArgfsTer?
ENST00000460750.5:c.*687_*688insAG ENSP00000418777.1:n.*687_*688insAG
ENST00000486577.6:c.960_961insAG ENSP00000417578.3:p.Gly321ArgfsTer?
ENST00000487664.5:c.1077_1078insAG ENSP00000417851.2:p.Gly360ArgfsTer?
ENST00000488444.6:c.1020_1021insAG ENSP00000419007.3:p.Gly341ArgfsTer?
ENST00000490355.6:c.1020_1021insAG ENSP00000418003.3:p.Gly341ArgfsTer?
ENST00000490363.3:n.896_897insAG
ENST00000491806.6:c.1020_1021insAG ENSP00000419086.3:p.Gly341ArgfsTer?
ENST00000628528.2:c.942_943insAG ENSP00000486374.1:p.Gly315ArgfsTer?
ENST00000630792.2:c.918_919insAG ENSP00000486486.1:p.Gly307ArgfsTer?
ENST00000631073.2:c.1020_1021insAG ENSP00000486130.1:p.Gly341ArgfsTer?
NM_001272003.1:c.942_943insAG NP_001258932.1:p.Gly315ArgfsTer?
NM_020822.2:c.1077_1078insAG NP_065873.2:p.Gly360ArgfsTer?
XM_011518877.1:c.1212_1213insAG XP_011517179.1:p.Gly405ArgfsTer?
XM_011518878.1:c.1221_1222insAG XP_011517180.1:p.Gly408ArgfsTer?
XM_011518879.1:c.1212_1213insAG XP_011517181.1:p.Gly405ArgfsTer?
XM_011518880.1:c.978_979insAG XP_011517182.1:p.Gly327ArgfsTer?
XM_011518881.1:c.567_568insAG XP_011517183.1:p.Gly190ArgfsTer?
XM_011518877.3:c.1212_1213insAG XP_011517179.1:p.Gly405ArgfsTer?
XM_011518878.3:c.1221_1222insAG XP_011517180.1:p.Gly408ArgfsTer?
XM_011518879.3:c.1212_1213insAG XP_011517181.1:p.Gly405ArgfsTer?
XM_011518881.3:c.567_568insAG XP_011517183.1:p.Gly190ArgfsTer?
XM_017014931.1:c.1011_1012insAG XP_016870420.1:p.Gly338ArgfsTer?
XM_017014932.1:c.834_835insAG XP_016870421.1:p.Gly279ArgfsTer?
XM_017014933.1:c.567_568insAG XP_016870422.1:p.Gly190ArgfsTer?
XM_024447617.1:c.567_568insAG XP_024303385.1:p.Gly190ArgfsTer?
XM_024447618.1:c.567_568insAG XP_024303386.1:p.Gly190ArgfsTer?
NM_020822.3:c.1077_1078insAG MANE Select NP_065873.2:p.Gly360ArgfsTer?
NM_001272003.2:c.942_943insAG NP_001258932.1:p.Gly315ArgfsTer?