Canonical Allele Identifier: CA2580080088
Gene: KCNT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2196704
ClinVar RCV Id: RCV002651147

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.135770462_135770463delinsTG , CM000671.2:g.135770462_135770463delinsTG GRCh38
NC_000009.11:g.138662308_138662309delinsTG , CM000671.1:g.138662308_138662309delinsTG GRCh37
NC_000009.10:g.137802129_137802130delinsTG NCBI36
NG_033070.1:g.73278_73279delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000371757.7:c.1769+15_1769+16delinsTG MANE Select ENSP00000360822.2:n.1769+15_1769+16delinsTG
ENST00000674572.1:c.1610+15_1610+16delinsTG ENSP00000501742.1:n.1610+15_1610+16delinsTG
ENST00000675090.1:c.1517+15_1517+16delinsTG ENSP00000501833.1:n.1517+15_1517+16delinsTG
ENST00000675399.1:c.1517+15_1517+16delinsTG ENSP00000501932.1:n.1517+15_1517+16delinsTG
ENST00000676421.1:c.1526+15_1526+16delinsTG ENSP00000502322.1:n.1526+15_1526+16delinsTG
ENST00000263604.5:c.1670+15_1670+16delinsTG ENSP00000263604.4:n.1670+15_1670+16delinsTG
ENST00000371757.6:c.1769+15_1769+16delinsTG ENSP00000360822.2:n.1769+15_1769+16delinsTG
ENST00000460750.5:c.*1379+15_*1379+16delinsTG ENSP00000418777.1:n.*1379+15_*1379+16delinsTG
ENST00000486577.6:c.1652+15_1652+16delinsTG ENSP00000417578.3:n.1652+15_1652+16delinsTG
ENST00000487664.5:c.1769+15_1769+16delinsTG ENSP00000417851.2:n.1769+15_1769+16delinsTG
ENST00000488444.6:c.1712+15_1712+16delinsTG ENSP00000419007.3:n.1712+15_1712+16delinsTG
ENST00000490355.6:c.1712+15_1712+16delinsTG ENSP00000418003.3:n.1712+15_1712+16delinsTG
ENST00000490363.3:n.1588+15_1588+16delinsTG
ENST00000491806.6:c.1712+15_1712+16delinsTG ENSP00000419086.3:n.1712+15_1712+16delinsTG
ENST00000628528.2:c.1634+15_1634+16delinsTG ENSP00000486374.1:n.1634+15_1634+16delinsTG
ENST00000630792.2:c.1610+15_1610+16delinsTG ENSP00000486486.1:n.1610+15_1610+16delinsTG
ENST00000631073.2:c.1712+15_1712+16delinsTG ENSP00000486130.1:n.1712+15_1712+16delinsTG
NM_001272003.1:c.1634+15_1634+16delinsTG NP_001258932.1:n.1634+15_1634+16delinsTG
NM_020822.2:c.1769+15_1769+16delinsTG NP_065873.2:n.1769+15_1769+16delinsTG
XM_011518877.1:c.1904+15_1904+16delinsTG XP_011517179.1:n.1904+15_1904+16delinsTG
XM_011518878.1:c.1913+15_1913+16delinsTG XP_011517180.1:n.1913+15_1913+16delinsTG
XM_011518879.1:c.1904+15_1904+16delinsTG XP_011517181.1:n.1904+15_1904+16delinsTG
XM_011518880.1:c.1670+15_1670+16delinsTG XP_011517182.1:n.1670+15_1670+16delinsTG
XM_011518881.1:c.1259+15_1259+16delinsTG XP_011517183.1:n.1259+15_1259+16delinsTG
XM_011518877.3:c.1904+15_1904+16delinsTG XP_011517179.1:n.1904+15_1904+16delinsTG
XM_011518878.3:c.1913+15_1913+16delinsTG XP_011517180.1:n.1913+15_1913+16delinsTG
XM_011518879.3:c.1904+15_1904+16delinsTG XP_011517181.1:n.1904+15_1904+16delinsTG
XM_011518881.3:c.1259+15_1259+16delinsTG XP_011517183.1:n.1259+15_1259+16delinsTG
XM_017014931.1:c.1703+15_1703+16delinsTG XP_016870420.1:n.1703+15_1703+16delinsTG
XM_017014932.1:c.1526+15_1526+16delinsTG XP_016870421.1:n.1526+15_1526+16delinsTG
XM_017014933.1:c.1259+15_1259+16delinsTG XP_016870422.1:n.1259+15_1259+16delinsTG
XM_024447617.1:c.1259+15_1259+16delinsTG XP_024303385.1:n.1259+15_1259+16delinsTG
XM_024447618.1:c.1259+15_1259+16delinsTG XP_024303386.1:n.1259+15_1259+16delinsTG
NM_020822.3:c.1769+15_1769+16delinsTG MANE Select NP_065873.2:n.1769+15_1769+16delinsTG
NM_001272003.2:c.1634+15_1634+16delinsTG NP_001258932.1:n.1634+15_1634+16delinsTG