Canonical Allele Identifier: CA2953917944

Gene: KCNT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135772935dup , CM000671.2:g.135772935dup	GRCh38
NC_000009.11:g.138664781dup , CM000671.1:g.138664781dup	GRCh37
NC_000009.10:g.137804602dup	NCBI36
NG_033070.1:g.75751dup

Transcript Alleles

HGVS	Amino-acid Change
NM_020822.3:c.2229dup MANE Select	NP_065873.2:p.Leu744AlafsTer?
ENST00000371757.7:c.2229dup MANE Select	ENSP00000360822.2:p.Leu744AlafsTer?
NM_001272003.1:c.2094dup	NP_001258932.1:p.Leu699AlafsTer?
NM_001272003.2:c.2094dup	NP_001258932.1:p.Leu699AlafsTer?
NM_020822.2:c.2229dup	NP_065873.2:p.Leu744AlafsTer?
ENST00000263604.5:c.2130dup	ENSP00000263604.4:p.Leu711AlafsTer?
ENST00000371757.6:c.2229dup	ENSP00000360822.2:p.Leu744AlafsTer?
ENST00000460750.5:c.*1839dup	ENSP00000418777.1:n.*1839dup
ENST00000486577.6:c.2112dup	ENSP00000417578.3:p.Leu705AlafsTer?
ENST00000487664.5:c.2229dup	ENSP00000417851.2:p.Leu744AlafsTer?
ENST00000488444.6:c.2172dup	ENSP00000419007.3:p.Leu725AlafsTer?
ENST00000490355.6:c.2166dup	ENSP00000418003.3:p.Leu723AlafsTer?
ENST00000490363.3:n.2048dup
ENST00000491806.6:c.2172dup	ENSP00000419086.3:p.Leu725AlafsTer?
ENST00000628528.2:c.2094dup	ENSP00000486374.1:p.Leu699AlafsTer?
ENST00000630792.2:c.2064dup	ENSP00000486486.1:p.Leu689AlafsTer?
ENST00000631073.2:c.2172dup	ENSP00000486130.1:p.Leu725AlafsTer?
ENST00000631193.1:c.78dup	ENSP00000486830.1:p.Leu27AlafsTer?
ENST00000674572.1:c.2070dup	ENSP00000501742.1:p.Leu691AlafsTer?
ENST00000675090.1:c.1977dup	ENSP00000501833.1:p.Leu660AlafsTer?
ENST00000675399.1:c.1977dup	ENSP00000501932.1:p.Leu660AlafsTer?
ENST00000676421.1:c.1986dup	ENSP00000502322.1:p.Leu663AlafsTer?
XM_011518877.1:c.2364dup	XP_011517179.1:p.Leu789AlafsTer?
XM_011518877.3:c.2364dup	XP_011517179.1:p.Leu789AlafsTer?
XM_011518878.1:c.2373dup	XP_011517180.1:p.Leu792AlafsTer?
XM_011518878.3:c.2373dup	XP_011517180.1:p.Leu792AlafsTer?
XM_011518879.1:c.2364dup	XP_011517181.1:p.Leu789AlafsTer?
XM_011518879.3:c.2364dup	XP_011517181.1:p.Leu789AlafsTer?
XM_011518880.1:c.2130dup	XP_011517182.1:p.Leu711AlafsTer?
XM_011518881.1:c.1719dup	XP_011517183.1:p.Leu574AlafsTer?
XM_011518881.3:c.1719dup	XP_011517183.1:p.Leu574AlafsTer?
XM_017014931.1:c.2163dup	XP_016870420.1:p.Leu722AlafsTer?
XM_017014932.1:c.1986dup	XP_016870421.1:p.Leu663AlafsTer?
XM_017014933.1:c.1719dup	XP_016870422.1:p.Leu574AlafsTer?
XM_024447617.1:c.1719dup	XP_024303385.1:p.Leu574AlafsTer?
XM_024447618.1:c.1719dup	XP_024303386.1:p.Leu574AlafsTer?