Canonical Allele Identifier: CA2692516608

Gene: KCNT1

Linked Data

• gnomAD v4: 9-135765725-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135765726del , CM000671.2:g.135765726del	GRCh38
NC_000009.11:g.138657572del , CM000671.1:g.138657572del	GRCh37
NC_000009.10:g.137797393del	NCBI36
NG_033070.1:g.68542del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1303del MANE Select	ENSP00000360822.2:p.Ser435LeufsTer?
ENST00000636995.1:n.30del
ENST00000637798.1:n.42del
ENST00000674572.1:c.1144del	ENSP00000501742.1:p.Ser382LeufsTer?
ENST00000675090.1:c.1051del	ENSP00000501833.1:p.Ser351LeufsTer?
ENST00000675399.1:c.1051del	ENSP00000501932.1:p.Ser351LeufsTer?
ENST00000676421.1:c.1060del	ENSP00000502322.1:p.Ser354LeufsTer?
ENST00000263604.5:c.1204del	ENSP00000263604.4:p.Ser402LeufsTer?
ENST00000371757.6:c.1303del	ENSP00000360822.2:p.Ser435LeufsTer?
ENST00000460750.5:c.*913del	ENSP00000418777.1:n.*913del
ENST00000486577.6:c.1186del	ENSP00000417578.3:p.Ser396LeufsTer?
ENST00000487664.5:c.1303del	ENSP00000417851.2:p.Ser435LeufsTer?
ENST00000488444.6:c.1246del	ENSP00000419007.3:p.Ser416LeufsTer?
ENST00000490355.6:c.1246del	ENSP00000418003.3:p.Ser416LeufsTer?
ENST00000490363.3:n.1122del
ENST00000491806.6:c.1246del	ENSP00000419086.3:p.Ser416LeufsTer?
ENST00000628528.2:c.1168del	ENSP00000486374.1:p.Ser390LeufsTer?
ENST00000630792.2:c.1144del	ENSP00000486486.1:p.Ser382LeufsTer?
ENST00000631073.2:c.1246del	ENSP00000486130.1:p.Ser416LeufsTer?
NM_001272003.1:c.1168del	NP_001258932.1:p.Ser390LeufsTer?
NM_020822.2:c.1303del	NP_065873.2:p.Ser435LeufsTer?
XM_011518877.1:c.1438del	XP_011517179.1:p.Ser480LeufsTer?
XM_011518878.1:c.1447del	XP_011517180.1:p.Ser483LeufsTer?
XM_011518879.1:c.1438del	XP_011517181.1:p.Ser480LeufsTer?
XM_011518880.1:c.1204del	XP_011517182.1:p.Ser402LeufsTer?
XM_011518881.1:c.793del	XP_011517183.1:p.Ser265LeufsTer?
XM_011518877.3:c.1438del	XP_011517179.1:p.Ser480LeufsTer?
XM_011518878.3:c.1447del	XP_011517180.1:p.Ser483LeufsTer?
XM_011518879.3:c.1438del	XP_011517181.1:p.Ser480LeufsTer?
XM_011518881.3:c.793del	XP_011517183.1:p.Ser265LeufsTer?
XM_017014931.1:c.1237del	XP_016870420.1:p.Ser413LeufsTer?
XM_017014932.1:c.1060del	XP_016870421.1:p.Ser354LeufsTer?
XM_017014933.1:c.793del	XP_016870422.1:p.Ser265LeufsTer?
XM_024447617.1:c.793del	XP_024303385.1:p.Ser265LeufsTer?
XM_024447618.1:c.793del	XP_024303386.1:p.Ser265LeufsTer?
NM_020822.3:c.1303del MANE Select	NP_065873.2:p.Ser435LeufsTer?
NM_001272003.2:c.1168del	NP_001258932.1:p.Ser390LeufsTer?