Canonical Allele Identifier: CA2692518722
Gene: KCNT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.135775241_135775244del , CM000671.2:g.135775241_135775244del GRCh38
NC_000009.11:g.138667087_138667090del , CM000671.1:g.138667087_138667090del GRCh37
NC_000009.10:g.137806908_137806911del NCBI36
NG_033070.1:g.78057_78060del

Transcript Alleles

HGVS Amino-acid Change
ENST00000371757.7:c.2244-69_2244-66del MANE Select ENSP00000360822.2:n.2244-69_2244-66del
ENST00000674572.1:c.2085-69_2085-66del ENSP00000501742.1:n.2085-69_2085-66del
ENST00000675090.1:c.1992-69_1992-66del ENSP00000501833.1:n.1992-69_1992-66del
ENST00000675399.1:c.1992-69_1992-66del ENSP00000501932.1:n.1992-69_1992-66del
ENST00000676421.1:c.2001-69_2001-66del ENSP00000502322.1:n.2001-69_2001-66del
ENST00000263604.5:c.2145-69_2145-66del ENSP00000263604.4:n.2145-69_2145-66del
ENST00000371757.6:c.2244-69_2244-66del ENSP00000360822.2:n.2244-69_2244-66del
ENST00000460750.5:c.*1854-69_*1854-66del ENSP00000418777.1:n.*1854-69_*1854-66del
ENST00000486577.6:c.2127-69_2127-66del ENSP00000417578.3:n.2127-69_2127-66del
ENST00000487664.5:c.2244-69_2244-66del ENSP00000417851.2:n.2244-69_2244-66del
ENST00000488444.6:c.2187-69_2187-66del ENSP00000419007.3:n.2187-69_2187-66del
ENST00000490355.6:c.2181-69_2181-66del ENSP00000418003.3:n.2181-69_2181-66del
ENST00000490363.3:n.2063-69_2063-66del
ENST00000491806.6:c.2187-69_2187-66del ENSP00000419086.3:n.2187-69_2187-66del
ENST00000628528.2:c.2109-69_2109-66del ENSP00000486374.1:n.2109-69_2109-66del
ENST00000630792.2:c.2079-69_2079-66del ENSP00000486486.1:n.2079-69_2079-66del
ENST00000631073.2:c.2187-69_2187-66del ENSP00000486130.1:n.2187-69_2187-66del
ENST00000631193.1:c.93-69_93-66del ENSP00000486830.1:n.93-69_93-66del
NM_001272003.1:c.2109-69_2109-66del NP_001258932.1:n.2109-69_2109-66del
NM_020822.2:c.2244-69_2244-66del NP_065873.2:n.2244-69_2244-66del
XM_011518877.1:c.2379-69_2379-66del XP_011517179.1:n.2379-69_2379-66del
XM_011518878.1:c.2388-69_2388-66del XP_011517180.1:n.2388-69_2388-66del
XM_011518879.1:c.2379-69_2379-66del XP_011517181.1:n.2379-69_2379-66del
XM_011518880.1:c.2145-69_2145-66del XP_011517182.1:n.2145-69_2145-66del
XM_011518881.1:c.1734-69_1734-66del XP_011517183.1:n.1734-69_1734-66del
XM_011518877.3:c.2379-69_2379-66del XP_011517179.1:n.2379-69_2379-66del
XM_011518878.3:c.2388-69_2388-66del XP_011517180.1:n.2388-69_2388-66del
XM_011518879.3:c.2379-69_2379-66del XP_011517181.1:n.2379-69_2379-66del
XM_011518881.3:c.1734-69_1734-66del XP_011517183.1:n.1734-69_1734-66del
XM_017014931.1:c.2178-69_2178-66del XP_016870420.1:n.2178-69_2178-66del
XM_017014932.1:c.2001-69_2001-66del XP_016870421.1:n.2001-69_2001-66del
XM_017014933.1:c.1734-69_1734-66del XP_016870422.1:n.1734-69_1734-66del
XM_024447617.1:c.1734-69_1734-66del XP_024303385.1:n.1734-69_1734-66del
XM_024447618.1:c.1734-69_1734-66del XP_024303386.1:n.1734-69_1734-66del
NM_020822.3:c.2244-69_2244-66del MANE Select NP_065873.2:n.2244-69_2244-66del
NM_001272003.2:c.2109-69_2109-66del NP_001258932.1:n.2109-69_2109-66del