Canonical Allele Identifier: CA2720684022

Gene: KCNT1

Linked Data

• dbSNP Id: rs2131504889

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135769967del , CM000671.2:g.135769967del	GRCh38
NC_000009.11:g.138661813del , CM000671.1:g.138661813del	GRCh37
NC_000009.10:g.137801634del	NCBI36
NG_033070.1:g.72783del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1531del MANE Select	ENSP00000360822.2:p.Glu511SerfsTer9
ENST00000674572.1:c.1372del	ENSP00000501742.1:p.Glu458SerfsTer9
ENST00000675090.1:c.1279del	ENSP00000501833.1:p.Glu427SerfsTer9
ENST00000675399.1:c.1279del	ENSP00000501932.1:p.Glu427SerfsTer9
ENST00000676421.1:c.1288del	ENSP00000502322.1:p.Glu430SerfsTer9
ENST00000263604.5:c.1432del	ENSP00000263604.4:p.Glu478SerfsTer9
ENST00000371757.6:c.1531del	ENSP00000360822.2:p.Glu511SerfsTer9
ENST00000460750.5:c.*1141del	ENSP00000418777.1:n.*1141del
ENST00000486577.6:c.1414del	ENSP00000417578.3:p.Glu472SerfsTer9
ENST00000487664.5:c.1531del	ENSP00000417851.2:p.Glu511SerfsTer9
ENST00000488444.6:c.1474del	ENSP00000419007.3:p.Glu492SerfsTer9
ENST00000490355.6:c.1474del	ENSP00000418003.3:p.Glu492SerfsTer9
ENST00000490363.3:n.1350del
ENST00000491806.6:c.1474del	ENSP00000419086.3:p.Glu492SerfsTer9
ENST00000628528.2:c.1396del	ENSP00000486374.1:p.Glu466SerfsTer9
ENST00000630792.2:c.1372del	ENSP00000486486.1:p.Glu458SerfsTer9
ENST00000631073.2:c.1474del	ENSP00000486130.1:p.Glu492SerfsTer9
NM_001272003.1:c.1396del	NP_001258932.1:p.Glu466SerfsTer9
NM_020822.2:c.1531del	NP_065873.2:p.Glu511SerfsTer9
XM_011518877.1:c.1666del	XP_011517179.1:p.Glu556SerfsTer9
XM_011518878.1:c.1675del	XP_011517180.1:p.Glu559SerfsTer9
XM_011518879.1:c.1666del	XP_011517181.1:p.Glu556SerfsTer9
XM_011518880.1:c.1432del	XP_011517182.1:p.Glu478SerfsTer9
XM_011518881.1:c.1021del	XP_011517183.1:p.Glu341SerfsTer9
XM_011518877.3:c.1666del	XP_011517179.1:p.Glu556SerfsTer9
XM_011518878.3:c.1675del	XP_011517180.1:p.Glu559SerfsTer9
XM_011518879.3:c.1666del	XP_011517181.1:p.Glu556SerfsTer9
XM_011518881.3:c.1021del	XP_011517183.1:p.Glu341SerfsTer9
XM_017014931.1:c.1465del	XP_016870420.1:p.Glu489SerfsTer9
XM_017014932.1:c.1288del	XP_016870421.1:p.Glu430SerfsTer9
XM_017014933.1:c.1021del	XP_016870422.1:p.Glu341SerfsTer9
XM_024447617.1:c.1021del	XP_024303385.1:p.Glu341SerfsTer9
XM_024447618.1:c.1021del	XP_024303386.1:p.Glu341SerfsTer9
NM_020822.3:c.1531del MANE Select	NP_065873.2:p.Glu511SerfsTer9
NM_001272003.2:c.1396del	NP_001258932.1:p.Glu466SerfsTer9