Canonical Allele Identifier: CA645558135

Gene: KCNT1

Linked Data

• COSMIC: COSM381687

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135775326_135775327delinsAA , CM000671.2:g.135775326_135775327delinsAA	GRCh38
NC_000009.11:g.138667172_138667173delinsAA , CM000671.1:g.138667172_138667173delinsAA	GRCh37
NC_000009.10:g.137806993_137806994delinsAA	NCBI36
NG_033070.1:g.78142_78143delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.2260_2261delinsAA MANE Select	ENSP00000360822.2:p.Pro754Asn
ENST00000674572.1:c.2101_2102delinsAA	ENSP00000501742.1:p.Pro701Asn
ENST00000675090.1:c.2008_2009delinsAA	ENSP00000501833.1:p.Pro670Asn
ENST00000675399.1:c.2008_2009delinsAA	ENSP00000501932.1:p.Pro670Asn
ENST00000676421.1:c.2017_2018delinsAA	ENSP00000502322.1:p.Pro673Asn
ENST00000263604.5:c.2161_2162delinsAA	ENSP00000263604.4:p.Pro721Asn
ENST00000371757.6:c.2260_2261delinsAA	ENSP00000360822.2:p.Pro754Asn
ENST00000460750.5:c.*1870_*1871delinsAA	ENSP00000418777.1:n.*1870_*1871delinsAA
ENST00000486577.6:c.2143_2144delinsAA	ENSP00000417578.3:p.Pro715Asn
ENST00000487664.5:c.2260_2261delinsAA	ENSP00000417851.2:p.Pro754Asn
ENST00000488444.6:c.2203_2204delinsAA	ENSP00000419007.3:p.Pro735Asn
ENST00000490355.6:c.2197_2198delinsAA	ENSP00000418003.3:p.Pro733Asn
ENST00000490363.3:n.2079_2080delinsAA
ENST00000491806.6:c.2203_2204delinsAA	ENSP00000419086.3:p.Pro735Asn
ENST00000628528.2:c.2125_2126delinsAA	ENSP00000486374.1:p.Pro709Asn
ENST00000630792.2:c.2095_2096delinsAA	ENSP00000486486.1:p.Pro699Asn
ENST00000631073.2:c.2203_2204delinsAA	ENSP00000486130.1:p.Pro735Asn
ENST00000631193.1:c.109_110delinsAA	ENSP00000486830.1:p.Pro37Asn
NM_001272003.1:c.2125_2126delinsAA	NP_001258932.1:p.Pro709Asn
NM_020822.2:c.2260_2261delinsAA	NP_065873.2:p.Pro754Asn
XM_011518877.1:c.2395_2396delinsAA	XP_011517179.1:p.Pro799Asn
XM_011518878.1:c.2404_2405delinsAA	XP_011517180.1:p.Pro802Asn
XM_011518879.1:c.2395_2396delinsAA	XP_011517181.1:p.Pro799Asn
XM_011518880.1:c.2161_2162delinsAA	XP_011517182.1:p.Pro721Asn
XM_011518881.1:c.1750_1751delinsAA	XP_011517183.1:p.Pro584Asn
XM_011518877.3:c.2395_2396delinsAA	XP_011517179.1:p.Pro799Asn
XM_011518878.3:c.2404_2405delinsAA	XP_011517180.1:p.Pro802Asn
XM_011518879.3:c.2395_2396delinsAA	XP_011517181.1:p.Pro799Asn
XM_011518881.3:c.1750_1751delinsAA	XP_011517183.1:p.Pro584Asn
XM_017014931.1:c.2194_2195delinsAA	XP_016870420.1:p.Pro732Asn
XM_017014932.1:c.2017_2018delinsAA	XP_016870421.1:p.Pro673Asn
XM_017014933.1:c.1750_1751delinsAA	XP_016870422.1:p.Pro584Asn
XM_024447617.1:c.1750_1751delinsAA	XP_024303385.1:p.Pro584Asn
XM_024447618.1:c.1750_1751delinsAA	XP_024303386.1:p.Pro584Asn
NM_020822.3:c.2260_2261delinsAA MANE Select	NP_065873.2:p.Pro754Asn
NM_001272003.2:c.2125_2126delinsAA	NP_001258932.1:p.Pro709Asn